{
  "url": "https://dantelabs.com/genes/des/variants/l377p",
  "gene": {
    "slug": "des",
    "symbol": "DES",
    "hgnc": "HGNC:2770",
    "url": "https://dantelabs.com/genes/des"
  },
  "variant": {
    "bundleId": "2026.10.17-8666dff2",
    "bundleDate": "2026-10-17",
    "gene": {
      "slug": "des",
      "symbol": "DES",
      "hgnc": "HGNC:2770"
    },
    "slug": "l377p",
    "name": "L377P",
    "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_001927.4(DES):c.1130T>C (p.Leu377Pro)",
    "classification": "likely-pathogenic",
    "stars": 2,
    "tier": "acmg",
    "otherNames": [],
    "aliases": [
      "leu377pro",
      "c-1130t-c",
      "rs1432061016",
      "ca350694440"
    ],
    "changedAt": "2026-10-17",
    "identifiers": {
      "allele": "CA350694440",
      "rsIds": [
        "rs1432061016"
      ],
      "clinvarVariationId": 1471108,
      "vcv": "VCV001471108",
      "clinvarAlleleId": 1488179
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "2",
        "pos": 219421446,
        "ref": "T",
        "alt": "C"
      },
      {
        "build": "GRCh37",
        "chrom": "2",
        "pos": 220286168,
        "ref": "T",
        "alt": "C"
      }
    ],
    "consequence": {
      "transcript": "NM_001927.4",
      "maneSelect": true,
      "hgvsC": "c.1130T>C",
      "hgvsP": "p.Leu377Pro",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "3",
      "classification": "uncertain-significance",
      "criteria": [
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "likely-pathogenic",
            "stars": 2
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0011076",
        "name": "myofibrillar myopathy 1",
        "classification": "likely-pathogenic",
        "stars": 2,
        "vcv": "VCV001471108",
        "submissions": 2,
        "lastEvaluated": "2022-06-19"
      }
    ],
    "reports": [
      {
        "slug": "dilated-cardiomyopathy",
        "diseases": [
          {
            "mondoId": "MONDO:0005021",
            "name": "Dilated Cardiomyopathy"
          }
        ]
      },
      {
        "slug": "myofibrillar-myopathies",
        "diseases": [
          {
            "mondoId": "MONDO:0018943",
            "name": "Myofibrillar myopathy"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "dilated-cardiomyopathy",
      "name": "Dilated Cardiomyopathy",
      "diseases": [
        {
          "mondoId": "MONDO:0005021",
          "name": "Dilated Cardiomyopathy",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/dilated-cardiomyopathy"
    },
    {
      "slug": "myofibrillar-myopathies",
      "name": "Myofibrillar Myopathies",
      "diseases": [
        {
          "mondoId": "MONDO:0018943",
          "name": "Myofibrillar myopathy",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/myofibrillar-myopathies"
    }
  ]
}