ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.764A>G (p.Tyr255Cys)

gnomAD frequency: 0.00002  dbSNP: rs1228498799
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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 RCV001322698 SCV001513584 uncertain significance Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2020-05-27 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The cysteine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with WDR35-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 255 of the WDR35 protein (p.Tyr255Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine.
Fulgent Genetics, Fulgent Genetics RCV001322698 SCV005654992 uncertain significance Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2024-03-25 criteria provided, single submitter clinical testing

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