ClinVar Miner

Submissions for variant NM_003392.7(WNT5A):c.487G>C (p.Gly163Arg)

dbSNP: rs587784562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147988 SCV000195482 likely pathogenic Autosomal dominant Robinow syndrome 1 2017-06-22 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000147988 SCV001370413 likely pathogenic Autosomal dominant Robinow syndrome 1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001850013 SCV002121374 uncertain significance not provided 2022-10-31 criteria provided, single submitter clinical testing 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on WNT5A protein function. ClinVar contains an entry for this variant (Variation ID: 160316). This variant has not been reported in the literature in individuals affected with WNT5A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 163 of the WNT5A protein (p.Gly163Arg).

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