ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1189C>T (p.Arg397Trp)

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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 RCV005052259 SCV005685373 uncertain significance Lymphatic malformation 6 2024-10-31 criteria provided, single submitter clinical testing A PIEZO1 c.1189C>T (p.Arg397Trp) was identified at a near heterozygous allelic fraction of 48.5%, a frequency which may be consistent with germline origin. This variant, to our knowledge, has not been reported in the medical literature. It is only observed on 6/1,532,094 alleles in the general population (gnomAD v.4.1.0), indicating it is not a common variant. Computational predictors are uncertain as to the impact of this variant on PIEZO1 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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