ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.1930G>A (p.Val644Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003556804 SCV004278263 benign not provided 2023-04-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738793 SCV005349292 uncertain significance PIEZO1-related disorder 2024-04-17 no assertion criteria provided clinical testing The PIEZO1 c.1930G>A variant is predicted to result in the amino acid substitution p.Val644Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0044% of alleles in individuals of South 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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