ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.995G>A (p.Cys332Tyr)

dbSNP: rs1602624745
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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 RCV000802915 SCV000942764 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2018-08-17 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individuals with ectodermal dysplasia (PMID: 11295832, 25333067, Invitae). This variant is also known as c.1237G>A in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tyrosine at codon 332 of the EDA protein (p.Cys332Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine.

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