ClinVar Miner

Submissions for variant NM_030761.5(WNT4):c.667G>A (p.Ala223Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003399648 SCV004104669 uncertain significance WNT4-related disorder 2023-05-08 criteria provided, single submitter clinical testing The WNT4 c.667G>A variant is predicted to result in the amino acid substitution p.Ala223Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-22446932-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005021935 SCV005645916 uncertain significance Mullerian aplasia and hyperandrogenism; SERKAL syndrome 2024-04-17 criteria provided, single submitter clinical testing

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