ClinVar Miner

Submissions for variant NC_000002.11:g.(?_219754812)_(219757475_?)del

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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 RCV004582517 SCV005067878 pathogenic Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2023-04-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with WNT10A-related conditions. This variant results in the deletion of part of exon 3 (c.483_757-21del) of the WNT10A gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the WNT10A protein in which other variant(s) (p.Gly221Arg) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.

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