ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.8260T>C (p.Tyr2754His)

gnomAD frequency: 0.00001  dbSNP: rs753719142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252387 SCV002523506 uncertain significance See cases 2020-02-10 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003101382 SCV002931036 uncertain significance not provided 2024-10-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 2641 of the PIEZO2 protein (p.Tyr2641His). This variant is present in population databases (rs753719142, gnomAD 0.003%). 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: 1690795). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PIEZO2 protein function with a negative predictive value of 95%. 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.

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