ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.1165_1178delinsTTCCAGCACAACATC (p.Ser389fs)

dbSNP: rs1944678383
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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 RCV001241317 SCV001414326 pathogenic Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2019-12-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with WNT10A-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the WNT10A protein. Other variant(s) that disrupt this region (p.Glu390*) have been determined to be pathogenic (PMID: 24902757). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the WNT10A gene (p.Ser389Phefs*39). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 29 amino acids of the WNT10A protein.

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