{
  "url": "https://dantelabs.com/genes/gamt/variants/v110f",
  "gene": {
    "slug": "gamt",
    "symbol": "GAMT",
    "hgnc": "HGNC:4136",
    "url": "https://dantelabs.com/genes/gamt"
  },
  "variant": {
    "bundleId": "2026.10.19-9814e911",
    "bundleDate": "2026-10-19",
    "gene": {
      "slug": "gamt",
      "symbol": "GAMT",
      "hgnc": "HGNC:4136"
    },
    "slug": "v110f",
    "name": "V110F",
    "formerSlugs": [],
    "sources": [
      {
        "source": "clinvar",
        "release": "2026-10-12"
      },
      {
        "source": "mondo",
        "release": "2026-10-06"
      },
      {
        "source": "hgnc",
        "release": "2026-10-16"
      },
      {
        "source": "clingen",
        "release": "2026-10-19-c4908f54"
      },
      {
        "source": "dbsnp",
        "release": "b157"
      },
      {
        "source": "genedisease",
        "release": "2026-10-19"
      },
      {
        "source": "giab",
        "release": "v3.6"
      },
      {
        "source": "mane",
        "release": "v1.5"
      },
      {
        "source": "mehari",
        "release": "0.11.0"
      }
    ],
    "status": "active",
    "commonName": null,
    "clinvarName": "NM_000156.6(GAMT):c.328G>T (p.Val110Phe)",
    "description": null,
    "classification": "likely-pathogenic",
    "stars": 3,
    "tier": "expert",
    "otherNames": [
      "p.V110F:GTC>TTC"
    ],
    "aliases": [
      "val110phe",
      "c-328g-t",
      "rs753198836",
      "ca314806",
      "p-v110f-gtc-ttc"
    ],
    "changedAt": "2026-10-18",
    "identifiers": {
      "allele": "CA314806",
      "rsIds": [
        "rs753198836"
      ],
      "clinvarVariationId": 205580,
      "vcv": "VCV000205580",
      "clinvarAlleleId": 203542
    },
    "locations": [
      {
        "build": "GRCh38",
        "chrom": "19",
        "pos": 1399587,
        "ref": "C",
        "alt": "A"
      },
      {
        "build": "GRCh37",
        "chrom": "19",
        "pos": 1399586,
        "ref": "C",
        "alt": "A"
      }
    ],
    "consequence": {
      "transcript": "NM_000156.6",
      "maneSelect": true,
      "hgvsC": "c.328G>T",
      "hgvsP": "p.Val110Phe",
      "consequences": [
        "missense_variant",
        "exonic_splice_region_variant"
      ],
      "impact": "moderate"
    },
    "acmg": {
      "rulesVersion": "4",
      "classification": "uncertain-significance",
      "criteria": [
        {
          "code": "PM2",
          "strength": "supporting",
          "population": {
            "datasets": [
              "gnomad-genomes"
            ],
            "frequency": 0.00001170999985333765
          }
        },
        {
          "code": "PP5",
          "strength": "supporting",
          "clinvar": {
            "classification": "likely-pathogenic",
            "stars": 3
          }
        }
      ],
      "frequencies": [
        {
          "dataset": "gnomad-exomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.0000061641217975675,
          "alleleCount": 9,
          "alleleNumber": 1460062,
          "homozygotes": 0,
          "groupMax": {
            "group": "nfe",
            "frequency": 0.00000719778017810313
          },
          "filteringMax": {
            "group": "nfe",
            "frequency": 0.000003099999958067201
          }
        },
        {
          "dataset": "gnomad-genomes",
          "version": "4.1",
          "found": true,
          "filtered": false,
          "frequency": 0.00001971608832807571,
          "alleleCount": 3,
          "alleleNumber": 152160,
          "homozygotes": 0,
          "groupMax": {
            "group": "nfe",
            "frequency": 0.00004410210021887906
          },
          "filteringMax": {
            "group": "nfe",
            "frequency": 0.00001170999985333765
          }
        }
      ]
    },
    "classifications": [
      {
        "mondoId": "MONDO:0012999",
        "name": "guanidinoacetate methyltransferase deficiency",
        "classification": "likely-pathogenic",
        "stars": 3,
        "vcv": "VCV000205580",
        "submissions": 1,
        "lastEvaluated": "2025-04-18",
        "expertPanel": "ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen"
      }
    ],
    "reports": [
      {
        "slug": "cerebral-creatine-deficiency-syndromes",
        "diseases": [
          {
            "mondoId": "MONDO:0000456",
            "name": "Cerebral Creatine Deficiency Syndrome"
          }
        ]
      }
    ],
    "difficultRegions": []
  },
  "reports": [
    {
      "slug": "cerebral-creatine-deficiency-syndromes",
      "name": "Cerebral Creatine Deficiency Syndromes",
      "diseases": [
        {
          "mondoId": "MONDO:0000456",
          "name": "Cerebral Creatine Deficiency Syndrome",
          "sameAsReport": false
        }
      ],
      "url": "https://dantelabs.com/conditions/cerebral-creatine-deficiency-syndromes"
    }
  ]
}