ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.2128C>T (p.Arg710Cys)

gnomAD frequency: 0.00003  dbSNP: rs781365658
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001555774 SCV001777241 uncertain significance not provided 2020-01-14 criteria provided, single submitter clinical testing Identified in a patient with nonsyndromic cleft palate in published literature (Pengelly et al., 2016); however, no second variant was identified and this individual also had other potential variants in other genes related to cleft lip and/or palate; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27456059)
Labcorp Genetics (formerly Invitae), Labcorp RCV002032612 SCV002185198 uncertain significance Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 721 of the WDR35 protein (p.Arg721Cys). This variant is present in population databases (rs781365658, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with WDR35-related conditions. ClinVar contains an entry for this variant (Variation ID: 1193391). 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 WDR35 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 RCV002032612 SCV005654932 uncertain significance Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2024-04-13 criteria provided, single submitter clinical testing

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