ClinVar Miner

Submissions for variant NM_001110219.3(GJB6):c.148G>C (p.Asp50His)

dbSNP: rs1869351345
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267508 SCV001445689 likely pathogenic Inborn genetic diseases 2018-08-17 criteria provided, single submitter clinical testing
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology RCV003985842 SCV004801859 likely pathogenic Hidrotic ectodermal dysplasia syndrome criteria provided, single submitter clinical testing A previously undescribed nucleotide variant creates a missense p.Asp50His in the GJB6 gene. The variant was observed in heterozygous state in an individual affected with Ectodermal dysplasia. Heterozygous variants are reported in patients with Ectodermal dysplasia 2, Clouston type, 129500. Different missense variant at the same position was previously reported as de novo in patient with Ectodermal dysplasia, Clouston type [Richard et al., 2002, PMID: 11912510; Baris et al., 2008, PMID: 18717672]. Pathogenicity prediction algorithms classify it as pathogenic (PolyPhen-2: 0.443: Sift: 0.03).The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic.

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