ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.5027C>T (p.Pro1676Leu)

gnomAD frequency: 0.00002  dbSNP: rs746252411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331750 SCV001523853 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 2019-04-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV004738254 SCV005350439 uncertain significance WDR81-related disorder 2024-07-19 no assertion criteria provided clinical testing The WDR81 c.5027C>T variant is predicted to result in the amino acid substitution p.Pro1676Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0055% of alleles in individuals of East Asian descent in gnomAD. 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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