{
  "url": "https://dantelabs.com/genes/otc/variants/s340f",
  "gene": {
    "slug": "otc",
    "symbol": "OTC",
    "hgnc": "HGNC:8512",
    "url": "https://dantelabs.com/genes/otc"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "otc",
      "symbol": "OTC",
      "hgnc": "HGNC:8512"
    },
    "slug": "s340f",
    "name": "S340F",
    "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_000531.6(OTC):c.1019C>T (p.Ser340Phe)",
    "classification": "pathogenic-likely-pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "ser340phe",
      "c-1019c-t",
      "rs1569282905",
      "ca412728035"
    ],
    "changedAt": "2026-10-17",
    "identifiers": {
      "allele": "CA412728035",
      "rsIds": [
        "rs1569282905"
      ],
      "clinvarVariationId": 618259,
      "vcv": "VCV000618259",
      "clinvarAlleleId": 610254
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "X",
        "pos": 38421036,
        "ref": "C",
        "alt": "T"
      },
      {
        "build": "GRCh37",
        "chrom": "X",
        "pos": 38280289,
        "ref": "C",
        "alt": "T"
      }
    ],
    "consequence": {
      "transcript": "NM_000531.6",
      "maneSelect": true,
      "hgvsC": "c.1019C>T",
      "hgvsP": "p.Ser340Phe",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "3",
      "classification": "uncertain-significance",
      "criteria": [
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "pathogenic-likely-pathogenic",
            "stars": 2
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0010703",
        "name": "ornithine carbamoyltransferase deficiency",
        "classification": "pathogenic-likely-pathogenic",
        "stars": 2,
        "vcv": "VCV000618259",
        "submissions": 2,
        "lastEvaluated": "2022-08-31"
      }
    ],
    "reports": [
      {
        "slug": "urea-cycle-disorder",
        "diseases": [
          {
            "mondoId": "MONDO:0004739",
            "name": "Urea Cycle Disorder"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "urea-cycle-disorder",
      "name": "Urea Cycle Disorder",
      "diseases": [
        {
          "mondoId": "MONDO:0004739",
          "name": "Urea Cycle Disorder",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/urea-cycle-disorder"
    }
  ]
}