ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.1102G>C (p.Gly368Arg) (rs72645367)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757099 SCV000885213 likely pathogenic not provided 2018-03-21 criteria provided, single submitter clinical testing The COL1A1 c.1102G>C; p.Gly368Arg variant, to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is absent from the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. However, other variants affecting this codon, including Gly368Ser and Gly368Val, have been reported in patients with osteogenesis imperfecta (Marini 2007, Bodian 2009). The variant is located in a triple helix repeat domain, and glycine substitutions are the most frequent pathogenic alterations in this region (Ben Amor 2011). The glycine at position 368 is highly conserved, considering 11 species, and computational analyses of the effects of the p.Gly368Arg variant on protein structure and function predict a deleterious effect (SIFT: damaging, PolyPhen-2: probably damaging). Based on the above information, the p.Gly368Arg variant is likely to be pathogenic.

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