ClinVar Miner

Submissions for variant NM_004297.4(GNA14):c.356T>C (p.Met119Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV003459021 SCV004177196 uncertain significance Tufted angioma of skin 2023-08-21 criteria provided, single submitter clinical testing The GNA14 c.356T>C (p.Met119Thr) variant was identified at a near heterozygous allelic fraction. This variant, to our knowledge, has not been reported in the medical literature. This variant has been reported in one case in the cancer database COSMIC (Genomic Mutation ID : COSV59023893). The GNA14 c.356T>C (p.Met119Thr) variant is only observed in 1/152194 alleles in the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors are conflicting as to the impact of this variant on the GNA14 function. Due to limited information and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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