ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.706+1G>A

dbSNP: rs886039344
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256169 SCV000321570 pathogenic not provided 2020-06-09 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 18821982)
Labcorp Genetics (formerly Invitae), Labcorp RCV000525670 SCV000630035 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2024-03-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the EDA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with ectodermal dysplasia (PMID: 18821982; Invitae). ClinVar contains an entry for this variant (Variation ID: 265107). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000525670 SCV004099170 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2023-09-25 criteria provided, single submitter clinical testing PP3_Strong, PS4_Supporting, PM2

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