ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.5097G>A (p.Pro1699=) (rs369034739)

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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 RCV000778705 SCV000915058 uncertain significance Dystrophic epidermolysis bullosa 2018-10-17 criteria provided, single submitter clinical testing The COL7A1 c.5097G>A (p.Pro1699) is a synonymous variant that has been reported to lead to an in-frame deletion of the protein through aberrant splicing (Whittock et al. 1999). The p.Pro1699 variant has been reported in two studies in which it is found in a compound heterozygous state in a total of two individuals affected with dystrophic epidermolysis bullosa (Whittock et al. 1999; Fassihi et al. 2006). Parental genotypes were confirmed for one patient (Fassihi et al. 2006). Control data are unavailable for the p.Pro1699 variant, which is reported at a frequency of 0.00010 in the European (Non- Finnish) population of the Exome Aggregation Consortium. Based on the limited evidence, the p.Pro1699 variant is 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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