{
  "url": "https://dantelabs.com/genes/acta1/variants/e95k",
  "gene": {
    "slug": "acta1",
    "symbol": "ACTA1",
    "hgnc": "HGNC:129",
    "url": "https://dantelabs.com/genes/acta1"
  },
  "variant": {
    "bundleId": "2026.10.21-311f020e",
    "bundleDate": "2026-10-21",
    "gene": {
      "slug": "acta1",
      "symbol": "ACTA1",
      "hgnc": "HGNC:129"
    },
    "slug": "e95k",
    "name": "E95K",
    "formerSlugs": [],
    "sources": [
      {
        "source": "clinvar",
        "release": "2026-10-19"
      },
      {
        "source": "mondo",
        "release": "2026-10-06"
      },
      {
        "source": "hgnc",
        "release": "2026-10-16"
      },
      {
        "source": "clingen",
        "release": "2026-10-21-c4908f54"
      },
      {
        "source": "dbsnp",
        "release": "b157"
      },
      {
        "source": "genedisease",
        "release": "2026-10-21"
      },
      {
        "source": "giab",
        "release": "v3.6"
      },
      {
        "source": "mane",
        "release": "v1.5"
      },
      {
        "source": "mehari",
        "release": "0.11.0"
      }
    ],
    "status": "active",
    "commonName": null,
    "clinvarName": "NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys)",
    "description": null,
    "descriptionProse": null,
    "references": {},
    "classification": "pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [],
    "aliases": [
      "glu95lys",
      "c-283g-a",
      "rs1571893814",
      "ca345150112",
      "vcv654469"
    ],
    "changedAt": "2026-10-21",
    "identifiers": {
      "allele": "CA345150112",
      "rsIds": [
        "rs1571893814"
      ],
      "clinvarVariationId": 654469,
      "vcv": "VCV000654469",
      "clinvarAlleleId": 627416
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "1",
        "pos": 229432727,
        "ref": "C",
        "alt": "T"
      },
      {
        "build": "GRCh37",
        "chrom": "1",
        "pos": 229568474,
        "ref": "C",
        "alt": "T"
      }
    ],
    "consequence": {
      "transcript": "NM_001100.4",
      "maneSelect": true,
      "hgvsC": "c.283G>A",
      "hgvsP": "p.Glu95Lys",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "6",
      "classification": "uncertain-significance",
      "points": 4,
      "criteria": [
        {
          "code": "PM5",
          "strength": "moderate",
          "points": 2,
          "counted": true,
          "clinvar": {
            "classification": "pathogenic",
            "stars": 1
          },
          "related": {
            "allele": "CA345150104",
            "hgvsP": "p.Glu95Gly"
          }
        },
        {
          "code": "PM1",
          "strength": "supporting",
          "points": 1,
          "counted": true,
          "hotspot": {
            "pathogenic": 8,
            "from": 90,
            "to": 100
          }
        },
        {
          "code": "PM2",
          "strength": "supporting",
          "points": 1,
          "counted": true,
          "population": {
            "datasets": [
              "gnomad-exomes",
              "gnomad-genomes"
            ]
          }
        },
        {
          "code": "PP5",
          "strength": "supporting",
          "points": 0,
          "counted": false,
          "clinvar": {
            "classification": "pathogenic",
            "stars": 3
          }
        }
      ],
      "expert": [
        {
          "panel": "Congenital Myopathies VCEP",
          "classification": "pathogenic",
          "disease": {
            "id": "MONDO:0100084",
            "label": "alpha-actinopathy"
          },
          "inheritance": "Autosomal dominant inheritance",
          "criteria": [
            {
              "code": "PM2",
              "strength": "supporting"
            },
            {
              "code": "PS2",
              "strength": "supporting"
            },
            {
              "code": "PP4",
              "strength": "strong"
            },
            {
              "code": "PS4",
              "strength": "moderate"
            },
            {
              "code": "PP2",
              "strength": "supporting"
            },
            {
              "code": "PP3",
              "strength": "supporting"
            }
          ],
          "approved": "2024-08-27",
          "url": "https://erepo.genome.network/evrepo/ui/classification/813ff07f-556e-4768-9347-9b93e3c210dd"
        }
      ],
      "frequencies": [
        {
          "dataset": "gnomad-exomes",
          "version": "4.1",
          "found": false,
          "filtered": false,
          "alleleCount": 0,
          "alleleNumber": 0,
          "homozygotes": 0
        },
        {
          "dataset": "gnomad-genomes",
          "version": "4.1",
          "found": false,
          "filtered": false,
          "alleleCount": 0,
          "alleleNumber": 0,
          "homozygotes": 0
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0100084",
        "name": "ACTA1-related myopathy (alpha-actinopathy)",
        "classification": "pathogenic",
        "stars": 3,
        "vcv": "VCV000654469",
        "submissions": 1,
        "lastEvaluated": "2024-08-27",
        "expertPanel": "ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen"
      }
    ],
    "reports": [
      {
        "slug": "congenital-myopathies",
        "diseases": [
          {
            "mondoId": "MONDO:0100084",
            "name": "ACTA1-related myopathy (alpha-actinopathy)"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "congenital-myopathies",
      "name": "Congenital Myopathies",
      "diseases": [
        {
          "mondoId": "MONDO:0100084",
          "name": "ACTA1-related myopathy (alpha-actinopathy)",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/congenital-myopathies"
    }
  ]
}