ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.3778G>A (p.Val1260Ile)

gnomAD frequency: 0.00019  dbSNP: rs776788949
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812954 SCV001472613 uncertain significance not provided 2022-04-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001812954 SCV003812947 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001812954 SCV004461626 benign not provided 2023-11-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004740646 SCV005354087 uncertain significance PIEZO1-related disorder 2024-05-28 no assertion criteria provided clinical testing The PIEZO1 c.3778G>A variant is predicted to result in the amino acid substitution p.Val1260Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.048% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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