ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.1270G>A (p.Val424Met)

dbSNP: rs1696609331
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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 RCV002241999 SCV001509284 uncertain significance Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2020-09-04 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of ectodermal dysplasia (PMID: 28265457). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with methionine at codon 424 of the EDAR protein (p.Val424Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine.
Dental Genetics Laboratory, Seoul National University School of Dentistry RCV005051892 SCV005088567 pathogenic Oligodontia no assertion criteria provided clinical testing variation affecting protein function luciferase assay showed reduced function

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