ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.595_613del (p.Pro199fs)

dbSNP: rs2147509712
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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 RCV001958619 SCV002236474 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2023-02-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1455505). This sequence change creates a premature translational stop signal (p.Pro199Phefs*75) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ectodermal dysplasia (PMID: 11279189, 35023123). This variant is also known as 595–613 del19 (199–204del, FS205). For these reasons, this variant has been classified as Pathogenic.
Department of Prosthodontics, Peking University School and Hospital of Stomatology RCV001958619 SCV002569098 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2022-08-16 criteria provided, single submitter research

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