ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.1435A>G (p.Met479Val)

gnomAD frequency: 0.00002  dbSNP: rs797046099
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193041 SCV000249434 uncertain significance not specified 2015-06-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000724941 SCV000332582 uncertain significance not provided 2015-06-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724941 SCV001250284 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001853122 SCV002200627 uncertain significance Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2022-08-15 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 212589). This variant has not been reported in the literature in individuals affected with WDR35-related conditions. This variant is present in population databases (rs797046099, gnomAD 0.01%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 490 of the WDR35 protein (p.Met490Val).
Fulgent Genetics, Fulgent Genetics RCV001853122 SCV002799681 uncertain significance Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2022-03-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000724941 SCV005187710 uncertain significance not provided criteria provided, single submitter not provided

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