ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.4810G>C (p.Gly1604Arg) (rs1560234201)

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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 RCV000778706 SCV000915059 uncertain significance Dystrophic epidermolysis bullosa 2018-08-23 criteria provided, single submitter clinical testing The COL7A1 c.4810G>C (p.Gly1604Arg) missense variant has not been reported in the literature in association with dystrophic epidermolysis bullosa (DEB). However, another nucleotide change at the same position, c.4810G>A, which results in the same amino acid substitution, p.Gly1604Arg, has been reported in a compound heterozygous state with a frameshift variant in at least two individuals with DEB (Whittock et al. 1999; Wessagowit et al. 2004; Kim et al. 2018). Control data are unavailable for the p.Gly1604Arg variant. The variant also is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Consortium despite good coverage of the genomic region, suggesting it is rare. The evidence for this variant is limited. The p.Gly1604Arg 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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