ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.5057A>G (p.His1686Arg)

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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 RCV004560378 SCV005047065 uncertain significance Lymphatic malformation 6 2024-01-02 criteria provided, single submitter clinical testing The PIEZO1 c.5057A>G (p.His1686Arg) variant was identified at a heterozygous allelic fraction of 50%, a frequency which may be consistent with it being of germline origin. This variant, to our knowledge, has not been reported in the medical literature. Computational predictors suggest that the variant does not impact PIEZO1 function. This variant is only observed on 4/152,166 alleles in the general population (gnomAD v3.1.2) indicating it is not a common variant. Due to conflicting 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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