ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.910T>C (p.Tyr304His)

gnomAD frequency: 0.00004  dbSNP: rs751565062
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596597 SCV000702078 uncertain significance not provided 2016-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532375 SCV003559648 uncertain significance Inborn genetic diseases 2022-04-13 criteria provided, single submitter clinical testing The c.910T>C (p.Y304H) alteration is located in exon 7 (coding exon 7) of the PIEZO2 gene. This alteration results from a T to C substitution at nucleotide position 910, causing the tyrosine (Y) at amino acid position 304 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000596597 SCV004644087 uncertain significance not provided 2023-10-04 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 304 of the PIEZO2 protein (p.Tyr304His). This variant is present in population databases (rs751565062, gnomAD 0.02%). 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: 497521). 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.

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