ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.973C>T (p.Arg325Trp)

gnomAD frequency: 0.00001  dbSNP: rs755654853
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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 RCV001050481 SCV001214590 likely pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2024-06-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 325 of the EDAR protein (p.Arg325Trp). This variant is present in population databases (rs755654853, gnomAD 0.01%). This missense change has been observed in individual(s) with tooth agenesis (PMID: 23991204). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 847026). 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 not expected to disrupt EDAR protein function with a negative predictive value of 80%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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