ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.697G>T (p.Glu233Ter)

dbSNP: rs121908118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851651 SCV002243590 pathogenic Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2022-06-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu233*) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 4460). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive ectodermal dysplasia (PMID: 17847007, 28813618).
OMIM RCV000004714 SCV000024889 pathogenic Odonto-onycho-dermal dysplasia 2007-10-01 no assertion criteria provided literature only

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