ClinVar Miner

Submissions for variant NM_025216.3(WNT10A):c.916_918dup (p.Asn306dup)

dbSNP: rs752005843
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University RCV001269382 SCV001335264 uncertain significance Tooth agenesis, selective, 4 criteria provided, single submitter research Low penetrance of WNT10A heterozygous variants were observed previously in patients with tooth agenesis (Kantaputra, Kaewgahya, & Kantaputra, 2014; Plaisancié et al., 2013). The c.912_918dupAAC (p.Asn306dup) variant was identified in non-syndromic tooth agenesis family inherited in an autosomal dominant manner but also identified in an unaffected relative. The variant is classified as uncertain significance based on ACMG guideline with the following evidence; PM2 and PM4.

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