ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.408C>G (p.Ile136Met)

dbSNP: rs201117517
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001430053 SCV001632777 likely benign Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2024-02-07 criteria provided, single submitter clinical testing
GeneDx RCV003229056 SCV003926315 uncertain significance not provided 2022-11-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
PreventionGenetics, part of Exact Sciences RCV004734185 SCV005350077 uncertain significance WNT10A-related disorder 2024-07-26 no assertion criteria provided clinical testing The WNT10A c.408C>G variant is predicted to result in the amino acid substitution p.Ile136Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-219754737-C-G). 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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