ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.3311A>G (p.Tyr1104Cys)

gnomAD frequency: 0.00024  dbSNP: rs192225494
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494435 SCV000582961 uncertain significance not provided 2025-01-22 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000494435 SCV002312087 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1079 of the PIEZO2 protein (p.Tyr1079Cys). This variant is present in population databases (rs192225494, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with PIEZO2-related conditions. ClinVar contains an entry for this variant (Variation ID: 430213). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PIEZO2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004023313 SCV005006141 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.3236A>G (p.Y1079C) alteration is located in exon 22 (coding exon 22) of the PIEZO2 gene. This alteration results from a A to G substitution at nucleotide position 3236, causing the tyrosine (Y) at amino acid position 1079 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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