ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.713T>G (p.Leu238Trp)

gnomAD frequency: 0.00001  dbSNP: rs927091191
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489499 SCV000577809 uncertain significance not provided 2017-07-06 criteria provided, single submitter clinical testing The L238W variant in the PIEZO2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L238W variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L238W variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position where amino acids with similar properties to Leucine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret L238W as a variant of uncertain significance.

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