ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.673del (p.Ser225fs)

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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 RCV002877108 SCV003236084 pathogenic Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2022-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser225Leufs*18) in the WNT10A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 193 amino acid(s) of the WNT10A protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the WNT10A protein in which other variant(s) (p.Glu390*) have been determined to be pathogenic (PMID: 24902757). 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 variant has not been reported in the literature in individuals affected with WNT10A-related conditions. This variant is not present in population databases (gnomAD no frequency).

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