ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.1214G>A (p.Gly405Asp)

dbSNP: rs1696610594
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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 RCV002240938 SCV001374191 pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2021-10-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces glycine with aspartic acid at codon 405 of the EDAR protein (p.Gly405Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with hypohidrotic ectodermal dysplasia (Invitae). ClinVar contains an entry for this variant (Variation ID: 934620). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EDAR protein function. This variant disrupts the p.Gly405 amino acid residue in EDAR. Other variant(s) that disrupt this residue have been observed in individuals with EDAR-related conditions (Invitae), which suggests that this may be a clinically significant amino acid residue.

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