ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.2882G>A (p.Trp961Ter)

dbSNP: rs2510686669
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340969 SCV004047875 likely pathogenic Arthrogryposis, distal, with impaired proprioception and touch criteria provided, single submitter clinical testing The c.2882G>A (p.Trp961Ter) stop gained variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Trp961Ter variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. The nucleotide change c.2882G>A in PIEZO2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Likely Pathogenic. In the absence of another reportable variant /CNV in PIEZO2 gene, the molecular diagnosis is not confirmed.

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