ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.811G>C (p.Gly271Arg)

dbSNP: rs2531335596
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340722 SCV004047393 uncertain significance Generalized dominant dystrophic epidermolysis bullosa criteria provided, single submitter clinical testing The missense variant c.811G>C (p.Gly271Arg) in COL7A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly271Arg variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Gly at position 271 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Gly271Arg in COL7A1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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