ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.599dup (p.Gly201fs)

dbSNP: rs1556098570
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548188 SCV000630031 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2020-08-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly201Argfs*39) in the EDA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with hypohidrotic ectodermal dysplasia (PMID: 9736768, 31652981). In at least one individual the variant was observed to be de novo. This variant has also been reported as c.841insC. ClinVar contains an entry for this variant (Variation ID: 458659). Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003905343 SCV004725617 pathogenic EDA-related condition 2024-01-05 criteria provided, single submitter clinical testing The EDA c.599dupC variant is predicted to result in a frameshift and premature protein termination (p.Gly201Argfs*39). This variant has been reported to be pathogenic for X-linked ectodermal dysplasia (reported as 836/841insC in Bayes et al. 1998. PubMed ID: 9736768; reported as c.594_595insC; Gly201Argfs*39 in Parveen et al. 2019. PubMed ID: 31652981). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in EDA are expected to be pathogenic. This variant is interpreted as pathogenic.

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