ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del)

dbSNP: rs764610550
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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) RCV000734747 SCV000862915 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001255364 SCV001431694 likely pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.1990_1992del, p.(Lys664del) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was M.The variant likely explains the NDD in this individual.
GeneDx RCV000734747 SCV001874027 likely pathogenic not provided 2024-06-14 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33911214)
Revvity Omics, Revvity RCV003141733 SCV003823726 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2020-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000734747 SCV004636938 uncertain significance not provided 2023-08-29 criteria provided, single submitter clinical testing This variant, c.1990_1992del, results in the deletion of 1 amino acid(s) of the WDR62 protein (p.Lys664del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs764610550, gnomAD 0.007%). 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: 598371). 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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