ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2752G>C (p.Gly918Arg)

dbSNP: rs1565672299
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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 RCV000757108 SCV000885223 likely pathogenic not provided 2017-06-30 criteria provided, single submitter clinical testing The p.Gly918Arg variant has not been reported in the scientific literature, gene specific variant and population databases such as 1000 Genomes, Exome Variant Server and Exome Aggregation Consortium (ExAC) browser or previously identified in our laboratory. However, one COL2A1 variant in the same amino acid codon leading to a different amino acid change has been reported: c.2752G>T; p.Gly918Cys in one COL2A1 related dysplasia patient (Terhal 2012). p.Gly918Arg is predicted to be a dominant negative variant that leads to glycine substitution in the core repeat (Gly-X-Y) of the COL2A1 helical region and introduces structural change in half of the alpha-1 chains, affecting homotrimer assembly and stability. This variant is likely pathogenic.

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