ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.4744G>A (p.Glu1582Lys)

gnomAD frequency: 0.00001  dbSNP: rs1040063411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001816180 SCV002063537 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001816180 SCV004267466 benign not provided 2023-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003911023 SCV004719630 uncertain significance PIEZO1-related disorder 2024-02-02 no assertion criteria provided clinical testing The PIEZO1 c.4744G>A variant is predicted to result in the amino acid substitution p.Glu1582Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.019% of alleles in individuals of East Asian 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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