ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1187G>A (p.Arg396Gln)

gnomAD frequency: 0.00039  dbSNP: rs764722890
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002915072 SCV003269079 likely benign not provided 2024-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002942237 SCV003678463 likely benign Inborn genetic diseases 2022-02-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002915072 SCV003799475 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing The PIEZO1 c.1187G>A; p.Arg396Gln variant (rs764722890), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.05% (79/168978 alleles). The arginine at codon 396 is weakly conserved, and computational analyses predict that this variant is neutral (REVEL: 0.076). Due to limited information, the clinical significance of this variant is uncertain at this time.

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