ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.-36_47del (p.Met1fs)

dbSNP: rs1931920527
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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 RCV001213126 SCV001384743 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2019-07-01 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing part of exon 1 (c.-36_47del) of the EDA gene, which includes the initiator codon. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with EDA-related conditions. Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). For these reasons, this variant has been classified as Pathogenic.

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