ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.826C>T (p.Arg276Cys)

dbSNP: rs387907197
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626808 SCV000747511 pathogenic Ectodermal dysplasia 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV000024599 SCV001577431 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2022-02-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg276 amino acid residue in EDA. 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. 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 EDA protein function. ClinVar contains an entry for this variant (Variation ID: 31908). This missense change has been observed in individuals with clinical features of, or diagnosis of, ectodermal dysplasia (PMID: 19921643, 21357618; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 276 of the EDA protein (p.Arg276Cys).
CeGaT Center for Human Genetics Tuebingen RCV002262574 SCV002546179 likely pathogenic not provided 2022-04-01 criteria provided, single submitter clinical testing EDA: PM1, PM2, PS4:Moderate, PP4
OMIM RCV000024599 SCV000045908 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2009-12-01 no assertion criteria provided literature only

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