Variants
SCN5A variants
The 47 SCN5A variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A997S | c.2989G>T | Exon 17 | 38,581,170 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1427S | c.4279G>T | Exon 24 | 38,557,248 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.611+1G>A | Intron 5 | 38,620,842 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.935-3C>G | Intron 7 | 38,608,217 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1140+1G>A | Intron 9 | 38,606,668 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1890G>A | Exon 12 | 38,603,712 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4242+1G>C | Intron 23 | 38,560,146 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4434+5G>A | Intron 25 | 38,556,436 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| D356N | c.1066G>A | Exon 9 | 38,606,743 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D1274N | c.3820G>A | Exon 21 | 38,566,426 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D1594H | c.4780G>C | Exon 27 | 38,554,309 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E161K | c.481G>A | Exon 4 | 38,622,401 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1783K | c.5347G>A | Exon 28 | 38,551,022 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F1616del | c.4847_4849del | Exon 28 | 38,551,519 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G1318V | c.3953G>T | Exon 22 | 38,562,422 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G1742R | c.5224G>A | Exon 28 | 38,551,145 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I1767V | c.5299A>G | Exon 28 | 38,551,070 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L1500V | c.4498C>G | Exon 26 | 38,555,697 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M1874dup | c.5620_5622dup | Exon 28 | 38,550,746 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N1379del | c.4137_4139del | Exon 23 | 38,560,249 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P1505S | c.4513C>T | Exon 26 | 38,555,682 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q646Rfs*5 | c.1936del | Exon 13 | 38,599,004 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R43X | c.127C>T | Exon 2 | 38,633,181 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R104W | c.310C>T | Exon 3 | 38,630,393 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R121W | c.361C>T | Exon 3 | 38,630,342 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R219C | c.655C>T | Exon 6 | 38,613,791 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R222Q | c.665G>A | Exon 6 | 38,613,781 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R222X | c.664C>T | Exon 6 | 38,613,782 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R225Q | c.674G>A | Exon 6 | 38,613,772 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R225W | c.673C>T | Exon 6 | 38,613,773 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R367H | c.1100G>A | Exon 9 | 38,606,709 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R376H | c.1127G>A | Exon 9 | 38,606,682 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R535X | c.1603C>T | Exon 12 | 38,603,999 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R808C | c.2422C>T | Exon 15 | 38,587,414 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R814Q | c.2441G>A | Exon 16 | 38,586,037 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R893C | c.2677C>T | Exon 16 | 38,585,801 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R893H | c.2678G>A | Exon 16 | 38,585,800 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1622X | c.4864C>T | Exon 28 | 38,551,505 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1625H | c.4874G>A | Exon 28 | 38,551,495 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1631H | c.4892G>A | Exon 28 | 38,551,477 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1643H | c.4928G>A | Exon 28 | 38,551,441 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S910L | c.2729C>T | Exon 16 | 38,585,749 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S1709L | c.5126C>T | Exon 28 | 38,551,243 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T1619M | c.4856C>T | Exon 28 | 38,551,513 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V411M | c.1231G>A | Exon 10 | 38,606,058 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V845Cfs*2 | c.2533del | Exon 16 | 38,585,944 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W1590X | c.4769G>A | Exon 27 | 38,554,320 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |