ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.983_984del (p.Arg328fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002979218 SCV003289953 pathogenic Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2022-01-06 criteria provided, single submitter clinical testing This variant disrupts a region of the WNT10A protein in which other variant(s) (p.Glu390*) have been determined to be pathogenic (PMID: 24902757; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This sequence change results in a frameshift in the WNT10A gene (p.Arg328Profs*99). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 90 amino acid(s) of the WNT10A protein and extend the protein by 8 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with WNT10A-related conditions. For these reasons, this variant has been classified as Pathogenic.

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