{
  "url": "https://dantelabs.com/genes/myo7a/variants/a1288p",
  "gene": {
    "slug": "myo7a",
    "symbol": "MYO7A",
    "hgnc": "HGNC:7606",
    "url": "https://dantelabs.com/genes/myo7a"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "myo7a",
      "symbol": "MYO7A",
      "hgnc": "HGNC:7606"
    },
    "slug": "a1288p",
    "name": "A1288P",
    "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_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)",
    "classification": "likely-pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [],
    "aliases": [
      "ala1288pro",
      "c-3862g-c",
      "rs749747871",
      "ca6198221"
    ],
    "changedAt": "2026-10-17",
    "identifiers": {
      "allele": "CA6198221",
      "rsIds": [
        "rs749747871"
      ],
      "clinvarVariationId": 866837,
      "vcv": "VCV000866837",
      "clinvarAlleleId": 856745
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "11",
        "pos": 77190808,
        "ref": "G",
        "alt": "C"
      },
      {
        "build": "GRCh37",
        "chrom": "11",
        "pos": 76901853,
        "ref": "G",
        "alt": "C"
      }
    ],
    "consequence": {
      "transcript": "NM_000260.4",
      "maneSelect": true,
      "hgvsC": "c.3862G>C",
      "hgvsP": "p.Ala1288Pro",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0019497",
        "name": "Nonsyndromic Genetic Hearing Loss",
        "classification": "likely-pathogenic",
        "stars": 3,
        "vcv": "VCV000866837",
        "submissions": 1,
        "lastEvaluated": "2022-12-21",
        "expertPanel": "ClinGen Hearing Loss Variant Curation Expert Panel"
      }
    ],
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "diseases": [
          {
            "mondoId": "MONDO:0019497",
            "name": "Nonsyndromic Genetic Hearing Loss"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "hearing-loss-and-deafness",
      "name": "Hearing Loss and Deafness",
      "diseases": [
        {
          "mondoId": "MONDO:0019497",
          "name": "Nonsyndromic Genetic Hearing Loss",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/hearing-loss-and-deafness"
    }
  ]
}