ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.949dup (p.Ala317fs)

dbSNP: rs775990266
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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 RCV000818549 SCV000959168 pathogenic Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2019-08-28 criteria provided, single submitter clinical testing 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.Cys376*) have been determined to be pathogenic (PMID: 19559398). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been reported in an individual affected with ectodermal derivative impairment (PMID: 28976000). While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change results in a frameshift in the WNT10A gene (p.Ala317Glyfs*111). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 102 amino acids of the WNT10A protein and extend the protein by an additional nine amino acids.

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