ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.7120G>A (p.Gly2374Arg) (rs181430415)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778701 SCV000915054 uncertain significance Dystrophic epidermolysis bullosa 2017-12-04 criteria provided, single submitter clinical testing The COL7A1 c.7120G>A (p.Gly2374Arg) missense variant has been reported in at least one study, where it was found in a family presenting with autosomal dominant dystrophic epidermolysis bullosa (DEB) with variable expression (Nischler et al. 2009). The variant segregated with disease in all seven affected members of the four-generation family: three presented with nail dystrophy and blisters and four presented with nail dystrophy only. The p.Gly2374Arg variant was absent from at least 52 control alleles but is reported at a frequency of 0.00061 in the Latino population of the Exome Aggregation Consortium. This frequency is high but may be accounted for by underdiagnosis of mild forms and the reduced penetrance that has been reported for autosomal dominant DEB (Almaani et al. 2011). The evidence for this variant is limited. The p.Gly2374Arg variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for dystrophic epidermolysis bullosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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