ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3589C>A (p.Pro1197Thr)

gnomAD frequency: 0.00030  dbSNP: rs375708869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501966 SCV000597960 uncertain significance not specified 2016-06-03 criteria provided, single submitter clinical testing
GeneDx RCV003151780 SCV003840666 uncertain significance not provided 2023-03-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003392336 SCV004121245 uncertain significance WDR62-related condition 2022-10-24 criteria provided, single submitter clinical testing The WDR62 c.3589C>A variant is predicted to result in the amino acid substitution p.Pro1197Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.060% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-36594319-C-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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