ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.872C>T (p.Pro291Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002939021 SCV003272855 uncertain significance Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 291 of the WDR35 protein (p.Pro291Leu). This variant is present in population databases (rs758121308, gnomAD 0.008%). 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: 2061334). 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 RCV002939021 SCV005654987 uncertain significance Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2024-05-14 criteria provided, single submitter clinical testing

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