ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.691A>G (p.Ile231Val)

gnomAD frequency: 0.00003  dbSNP: rs769180655
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001302578 SCV001491792 uncertain significance Bardet-Biedl syndrome 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 231 of the WDPCP protein (p.Ile231Val). This variant is present in population databases (rs769180655, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with WDPCP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1005664). 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) performed at Invitae indicates that this missense variant is not expected to disrupt WDPCP protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002493593 SCV002791659 uncertain significance Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 2022-04-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544630 SCV003541969 likely benign Inborn genetic diseases 2022-01-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003416173 SCV004116804 uncertain significance WDPCP-related disorder 2024-09-24 no assertion criteria provided clinical testing The WDPCP c.691A>G variant is predicted to result in the amino acid substitution p.Ile231Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.026% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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