ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.2161C>G (p.Leu721Val)

gnomAD frequency: 0.00001  dbSNP: rs1481129284
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774292 SCV002002110 uncertain significance not provided 2020-06-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004738373 SCV005367686 uncertain significance PIEZO2-related disorder 2024-09-03 no assertion criteria provided clinical testing The PIEZO2 c.2161C>G variant is predicted to result in the amino acid substitution p.Leu721Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0069% of alleles in individuals of European (non-Finnish) 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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