ClinVar Miner

Submissions for variant NM_003392.7(WNT5A):c.530G>C (p.Trp177Ser)

gnomAD frequency: 0.00001  dbSNP: rs1231823028
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763280 SCV001990678 uncertain significance not provided 2019-03-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Labcorp Genetics (formerly Invitae), Labcorp RCV001763280 SCV003315432 likely benign not provided 2022-08-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226486 SCV003922898 uncertain significance not specified 2023-03-30 criteria provided, single submitter clinical testing Variant summary: WNT5A c.530G>C (p.Trp177Ser) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 210738 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.530G>C in individuals affected with Autosomal Dominant Robinow Syndrome 1 and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters have assessed the variant since 2014: one classified the variant as uncertain significance and one as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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