ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.686dup (p.Gly230fs)

dbSNP: rs1602618442
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000852303 SCV000928320 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2019-06-20 criteria provided, single submitter clinical testing A hemizygous variant c.686dup (p.Gly230TrpfsTer10) in exon-4 has been observed in the EDA gene. The proband born of non consanguineous marriage, presented with clinical indications of golden scanty hair, sparse eyebrows, absence of pigmentation, intolerance to heat, hypodontia and dysmorphic face. The observed variant has previously been reported in patient affected with X-linked hypohidrotic ectodermal dysplasia (Dietz J. et al. European journal of pediatrics 2013). The variant has not been reported in the 1000 genomes, ExAC and our internal database. The in silico prediction of variant is damaging by MutationTaster2. In summary, the said variant meets our criteria to be classified as pathogenic based on the mode of inheritance, in silico prediction, allele frequency in population databases and lack of segregation study.

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