ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.266G>A (p.Arg89His)

gnomAD frequency: 0.00001  dbSNP: rs121908450
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038628 SCV001202107 pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 89 of the EDAR protein (p.Arg89His). This variant is present in population databases (rs121908450, gnomAD 0.007%). This missense change has been observed in individual(s) with autosomal recessive hypohidrotic ectodermal dysplasia and/or mild autosomal dominant ectodermal dysplasia (PMID: 18231121, 20236127, 20979233). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 5849). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on EDAR protein function. This variant disrupts the p.Arg89 amino acid residue in EDAR. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253315 SCV001428969 pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 2018-01-19 criteria provided, single submitter clinical testing
OMIM RCV000006206 SCV000026388 pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 2008-06-01 no assertion criteria provided literature only
OMIM RCV000032598 SCV000056349 pathogenic Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant 2008-06-01 no assertion criteria provided literature only
Hehr Laboratory, Center for Human Genetics Regensburg RCV000681480 SCV000808930 pathogenic Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 4b 2016-10-09 no assertion criteria provided clinical testing

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