{
  "url": "https://dantelabs.com/genes/tsc2/variants/e793x",
  "gene": {
    "slug": "tsc2",
    "symbol": "TSC2",
    "hgnc": "HGNC:12363",
    "url": "https://dantelabs.com/genes/tsc2"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "tsc2",
      "symbol": "TSC2",
      "hgnc": "HGNC:12363"
    },
    "slug": "e793x",
    "name": "E793X",
    "formerSlugs": [],
    "sources": [
      {
        "source": "clinvar",
        "release": "2026-10-12"
      },
      {
        "source": "mondo",
        "release": "2026-10-06"
      },
      {
        "source": "hgnc",
        "release": "2026-10-16"
      },
      {
        "source": "clingen",
        "release": "2026-10-17-c4908f54"
      },
      {
        "source": "dbsnp",
        "release": "b157"
      },
      {
        "source": "genedisease",
        "release": "2026-10-17"
      },
      {
        "source": "giab",
        "release": "v3.6"
      },
      {
        "source": "mane",
        "release": "v1.5"
      },
      {
        "source": "mehari",
        "release": "0.11.0"
      }
    ],
    "status": "active",
    "commonName": null,
    "clinvarName": "NM_000548.5(TSC2):c.2377G>T (p.Glu793Ter)",
    "classification": "pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "glu793ter",
      "c-2377g-t",
      "rs1596356248",
      "ca394277020"
    ],
    "changedAt": "2026-10-17",
    "identifiers": {
      "allele": "CA394277020",
      "rsIds": [
        "rs1596356248"
      ],
      "clinvarVariationId": 817536,
      "vcv": "VCV000817536",
      "clinvarAlleleId": 805865
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "16",
        "pos": 2074221,
        "ref": "G",
        "alt": "T"
      },
      {
        "build": "GRCh37",
        "chrom": "16",
        "pos": 2124222,
        "ref": "G",
        "alt": "T"
      }
    ],
    "consequence": {
      "transcript": "NM_000548.5",
      "maneSelect": true,
      "hgvsC": "c.2377G>T",
      "hgvsP": "p.Glu793Ter",
      "consequences": [
        "stop_gained"
      ],
      "impact": "high"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0013199",
        "name": "tuberous sclerosis 2",
        "classification": "pathogenic",
        "stars": 2,
        "vcv": "VCV000817536",
        "submissions": 2,
        "lastEvaluated": "2022-02-03"
      }
    ],
    "reports": [
      {
        "slug": "tuberous-sclerosis",
        "diseases": [
          {
            "mondoId": "MONDO:0001734",
            "name": "Tuberous Sclerosis",
            "inheritance": "autosomal-dominant"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "tuberous-sclerosis",
      "name": "Tuberous Sclerosis",
      "diseases": [
        {
          "mondoId": "MONDO:0001734",
          "name": "Tuberous Sclerosis",
          "inheritance": "autosomal-dominant",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/tuberous-sclerosis"
    }
  ]
}