ClinVar Miner

Submissions for variant NM_145861.4(EDARADD):c.413A>T (p.Asn138Ile)

dbSNP: rs1030214435
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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 RCV001269383 SCV001335265 likely pathogenic Tooth agenesis criteria provided, single submitter research The missense mutation in EDARADD gene was previously reported in a patient with isolated tooth agenesis (Bergendal 2011, Barbato 2018). The p.Asn138Ile is located in the death domain of EDARADD interacting with EDAR. The variant is classified as likely pathogenic using ACMG guideline with the following evidence; PM1, PM2, PP2 and PP3.

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