ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.5771A>T (p.Gln1924Leu) (rs746824716)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778702 SCV000915055 uncertain significance Dystrophic epidermolysis bullosa 2018-01-31 criteria provided, single submitter clinical testing The COL7A1 c.5771A>T (p.Gln1924Leu) missense variant has been reported in a compound heterozygous state with a splicing variant in an individual with a type of dystrophic epidermolysis bullosa (Mangold et al. 2014). Control data are unavailable for this variant which is reported at a frequency of 0.00157 in the Latino population of the Exome Aggregation Consortium. The evidence for this variant is limited. Therefore, the p.Gln1924Leu variant is classified as a variant of unknown significance but is suspicious for pathogenicity for dystrophy epidermolysis bullosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV001449308 SCV001652422 likely benign not provided 2020-01-14 criteria provided, single submitter clinical testing

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