ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.1045G>A (p.Ala349Thr)

dbSNP: rs132630317
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255050 SCV000321585 pathogenic not provided 2023-09-01 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 11343303, 18666859, 21457804, 30192988, 15461765, 35131284, 22446708, 22566850, 30117778, 31129666, 24312213, 11295832, 9683615, 34863015, 26582918, 24077912)
Labcorp Genetics (formerly Invitae), Labcorp RCV000011787 SCV001235748 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2024-11-21 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 349 of the EDA protein (p.Ala349Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ectodermal dysplasia (PMID: 9683615, 15461765). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 11040). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt EDA protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011787 SCV000032019 pathogenic Hypohidrotic X-linked ectodermal dysplasia 1998-08-01 no assertion criteria provided literature only

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