ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.1729T>G (p.Phe577Val)

gnomAD frequency: 0.00029  dbSNP: rs141845729
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195475 SCV000255021 uncertain significance Bardet-Biedl syndrome 2023-07-10 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) performed at Invitae indicates that this missense variant is expected to disrupt WDPCP protein function. ClinVar contains an entry for this variant (Variation ID: 216694). This variant has not been reported in the literature in individuals affected with WDPCP-related conditions. This variant is present in population databases (rs141845729, gnomAD 0.03%). This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 577 of the WDPCP protein (p.Phe577Val).
Fulgent Genetics, Fulgent Genetics RCV002492917 SCV002801498 uncertain significance Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 2022-04-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937755 SCV004749642 uncertain significance WDPCP-related condition 2024-01-16 criteria provided, single submitter clinical testing The WDPCP c.1729T>G variant is predicted to result in the amino acid substitution p.Phe577Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.037% of alleles in individuals of African 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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