ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.4549C>T (p.Arg1517Trp)

gnomAD frequency: 0.00025  dbSNP: rs373621531
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000382032 SCV000340799 uncertain significance not provided 2016-04-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820825 SCV002067187 uncertain significance not specified 2018-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000382032 SCV002157385 uncertain significance not provided 2022-06-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1517 of the WDR62 protein (p.Arg1517Trp). This variant is present in population databases (rs373621531, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with WDR62-related conditions. ClinVar contains an entry for this variant (Variation ID: 287119). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000382032 SCV002541513 uncertain significance not provided 2021-11-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518974 SCV003712365 uncertain significance Inborn genetic diseases 2020-12-04 criteria provided, single submitter clinical testing The c.4549C>T (p.R1517W) alteration is located in exon 32 (coding exon 32) of the WDR62 gene. This alteration results from a C to T substitution at nucleotide position 4549, causing the arginine (R) at amino acid position 1517 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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