ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.381_382delinsTT (p.Arg128Ter)

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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 RCV003810061 SCV004607920 pathogenic Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2023-08-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with WNT10A-related conditions (PMID: 20163410, 23167694). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Arg128*) in the WNT10A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WNT10A are known to be pathogenic (PMID: 17847007, 22581971, 25629078).

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