ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.956G>A (p.Ser319Asn)

dbSNP: rs483352804
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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 RCV005092203 SCV005751538 uncertain significance Hypohidrotic X-linked ectodermal dysplasia 2024-05-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 319 of the EDA protein (p.Ser319Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of EDA-related conditions (PMID: 35599849). ClinVar contains an entry for this variant (Variation ID: 625527). 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 with a positive predictive value of 95%. 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.
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000767532 SCV000898150 likely pathogenic Tooth agenesis, selective, X-linked, 1 2018-08-21 no assertion criteria provided clinical testing

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