ClinVar Miner

Submissions for variant NM_004297.4(GNA14):c.215C>T (p.Thr72Met)

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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 RCV003459000 SCV004177135 uncertain significance Tufted angioma of skin 2023-11-03 criteria provided, single submitter clinical testing A GNA14 c.215C>T (p.Thr72Met) variant was identified at a near heterozygous allelic fraction of 51%, a frequency which may be consistent with it being of germline origin. The GNA14 c.215C>T (p.Thr72Met) variant, to our knowledge, has not been reported in the medical literature. The highest population minor allele frequency in the population database genome aggregation database (v.4.0.0) is 0.4% in the South Asian population. Computational predictors are uncertain as to the impact of this variant on GNA14 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as being of uncertain significance at this time.

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