ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.380del (p.Phe127fs)

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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 RCV003806984 SCV004594465 pathogenic Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2023-07-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Phe127Serfs*28) 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). 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.

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