ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.4623C>A (p.Asp1541Glu)

dbSNP: rs748928863
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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 RCV001989258 SCV002278864 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001989258 SCV004236027 uncertain significance not provided 2023-05-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913477 SCV004729999 uncertain significance PIEZO1-related disorder 2024-01-23 no assertion criteria provided clinical testing The PIEZO1 c.4623C>A variant is predicted to result in the amino acid substitution p.Asp1541Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% 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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