ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met)

dbSNP: rs554899632
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227324 SCV002506164 uncertain significance not provided 2022-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003101295 SCV003730844 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.2731G>A (p.V911M) alteration is located in exon 20 (coding exon 20) of the PIEZO1 gene. This alteration results from a G to A substitution at nucleotide position 2731, causing the valine (V) at amino acid position 911 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV002227324 SCV003812905 uncertain significance not provided 2022-11-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002227324 SCV004561916 benign not provided 2023-05-29 criteria provided, single submitter clinical testing
Clinical Genomics Laboratory, Washington University in St. Louis RCV005051951 SCV005685481 uncertain significance Lymphatic malformation 6 2024-10-01 criteria provided, single submitter clinical testing A PIEZO1 c.2731G>A (p.Val911Met) variant was identified at a near heterozygous allelic fraction of 48.85%, a frequency that may be consistent with germline origin. This variant, to our knowledge, has not been reported in the medical literature and is only observed on 60/1,549,666 alleles in the general population (gnomAD v.4.1.0), indicating it is not a common variant. This variant has been reported in the ClinVar database as a benign variant by one submitter and a variant of uncertain significance by three submitters, all in a germline state (Clinvar ID: 1679445). Computational predictors suggest that the variant does not impact 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 the PIEZO1 c.2731G>A (p.Val911Met) variant is uncertain at this time.

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