ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.487G>A (p.Glu163Lys)

dbSNP: rs2510999732
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003324222 SCV004029640 likely pathogenic PIEZO2-related disorder 2023-07-03 criteria provided, single submitter clinical testing Variant summary: FAM38B c.487G>A (p.Glu163Lys) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 174544 control chromosomes (gnomAD). A de novo occurrence of c.487G>A was seen in a proband affected with FAM38B-Related Disorder internally. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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