{
  "url": "https://dantelabs.com/genes/sgca/variants/l89f",
  "gene": {
    "slug": "sgca",
    "symbol": "SGCA",
    "hgnc": "HGNC:10805",
    "url": "https://dantelabs.com/genes/sgca"
  },
  "variant": {
    "bundleId": "2026.10.16-c6eea6bf",
    "bundleDate": "2026-10-16",
    "gene": {
      "slug": "sgca",
      "symbol": "SGCA",
      "hgnc": "HGNC:10805"
    },
    "slug": "l89f",
    "name": "L89F",
    "formerSlugs": [],
    "sources": [
      {
        "source": "clinvar",
        "release": "2026-10-12"
      },
      {
        "source": "mondo",
        "release": "2026-10-06"
      },
      {
        "source": "hgnc",
        "release": "2026-10-16"
      },
      {
        "source": "clingen",
        "release": "2026-10-16-c4908f54"
      },
      {
        "source": "dbsnp",
        "release": "b157"
      },
      {
        "source": "genedisease",
        "release": "2026-10-16"
      },
      {
        "source": "giab",
        "release": "v3.6"
      },
      {
        "source": "mane",
        "release": "v1.5"
      },
      {
        "source": "mehari",
        "release": "0.11.0"
      }
    ],
    "status": "active",
    "commonName": null,
    "clinvarName": "NM_000023.4(SGCA):c.265C>T (p.Leu89Phe)",
    "classification": "likely-pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [],
    "aliases": [
      "leu89phe",
      "c-265c-t",
      "rs773161308",
      "ca400177739"
    ],
    "changedAt": "2026-10-16",
    "identifiers": {
      "allele": "CA400177739",
      "rsIds": [
        "rs773161308"
      ],
      "clinvarVariationId": 659203,
      "vcv": "VCV000659203",
      "clinvarAlleleId": 646178
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "17",
        "pos": 50167689,
        "ref": "C",
        "alt": "T"
      },
      {
        "build": "GRCh37",
        "chrom": "17",
        "pos": 48245050,
        "ref": "C",
        "alt": "T"
      }
    ],
    "consequence": {
      "transcript": "NM_000023.4",
      "maneSelect": true,
      "hgvsC": "c.265C>T",
      "hgvsP": "p.Leu89Phe",
      "consequences": [
        "missense_variant"
      ],
      "impact": "moderate"
    },
    "classifications": [
      {
        "mondoId": "MONDO:0015152",
        "name": "autosomal recessive limb-girdle muscular dystrophy",
        "classification": "likely-pathogenic",
        "stars": 3,
        "vcv": "VCV000659203",
        "submissions": 1,
        "lastEvaluated": "2026-04-29",
        "expertPanel": "ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen"
      }
    ],
    "reports": [
      {
        "slug": "limb-girdle-muscular-dystrophy",
        "diseases": [
          {
            "mondoId": "MONDO:0016971",
            "name": "Limb-girdle Muscular Dystrophy"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "limb-girdle-muscular-dystrophy",
      "name": "Limb-Girdle Muscular Dystrophy",
      "diseases": [
        {
          "mondoId": "MONDO:0016971",
          "name": "Limb-girdle Muscular Dystrophy",
          "sameAsReport": true
        }
      ],
      "url": "https://dantelabs.com/conditions/limb-girdle-muscular-dystrophy"
    }
  ]
}