{
  "url": "https://dantelabs.com/genes/dsg2/variants/d494a",
  "gene": {
    "slug": "dsg2",
    "symbol": "DSG2",
    "hgnc": "HGNC:3049",
    "url": "https://dantelabs.com/genes/dsg2"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "dsg2",
      "symbol": "DSG2",
      "hgnc": "HGNC:3049"
    },
    "slug": "d494a",
    "name": "D494A",
    "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_001943.5(DSG2):c.1481A>C (p.Asp494Ala)",
    "classification": "likely-pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "asp494ala",
      "c-1481a-c",
      "rs193298428",
      "ca021409"
    ],
    "changedAt": "2026-10-16",
    "identifiers": {
      "allele": "CA021409",
      "rsIds": [
        "rs193298428"
      ],
      "clinvarVariationId": 199808,
      "vcv": "VCV000199808",
      "clinvarAlleleId": 197983
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "18",
        "pos": 31536259,
        "ref": "A",
        "alt": "C"
      },
      {
        "build": "GRCh37",
        "chrom": "18",
        "pos": 29116222,
        "ref": "A",
        "alt": "C"
      }
    ],
    "consequence": {
      "transcript": "NM_001943.5",
      "maneSelect": true,
      "hgvsC": "c.1481A>C",
      "hgvsP": "p.Asp494Ala",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0012434",
        "name": "arrhythmogenic right ventricular dysplasia 10",
        "classification": "likely-pathogenic",
        "stars": 2,
        "vcv": "VCV000199808",
        "submissions": 2,
        "lastEvaluated": "2025-09-28"
      }
    ],
    "reports": [
      {
        "slug": "arrhythmogenic-cardiomyopathy",
        "diseases": [
          {
            "mondoId": "MONDO:0016587",
            "name": "Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "arrhythmogenic-cardiomyopathy",
      "name": "Arrhythmogenic Cardiomyopathy",
      "diseases": [
        {
          "mondoId": "MONDO:0016587",
          "name": "Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/arrhythmogenic-cardiomyopathy"
    }
  ]
}