ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.228_234delinsAA (p.Leu78fs)

dbSNP: rs1555972067
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552186 SCV000630023 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2021-08-24 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with ectodermal dysplasia (Invitae). For these reasons, this variant has been classified as Pathogenic. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change creates a premature translational stop signal (p.Leu78Argfs*20) in the EDA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615).

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