ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.3416G>A (p.Arg1139Gln)

dbSNP: rs747323210
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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 RCV001880786 SCV002146379 benign not provided 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003407870 SCV004113966 uncertain significance PIEZO1-related disorder 2023-03-15 criteria provided, single submitter clinical testing The PIEZO1 c.3416G>A variant is predicted to result in the amino acid substitution p.Arg1139Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.018% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-88793486-C-T). 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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