ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1031G>A (p.Gly344Asp)

gnomAD frequency: 0.00006  dbSNP: rs141927841
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171704 SCV001334529 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Invitae RCV001171704 SCV003456663 uncertain significance not provided 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 344 of the WDR62 protein (p.Gly344Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs141927841, ExAC 0.005%). This missense change has been observed in individual(s) with developmental disorders (PMID: 30091983). ClinVar contains an entry for this variant (Variation ID: 916171). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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