ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2588G>A (p.Gly863Asp)

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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 RCV001286205 SCV001472737 likely pathogenic none provided 2020-07-06 criteria provided, single submitter clinical testing The COL1A1 c.2588G>A; p.Gly863Asp variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This codon is located in a triple helix repeat domain, and glycine substitutions are the most frequent pathogenic alterations in this region (Ben Amor 2011). Additionally, another variant at this codon, c.2588G>T, p p.Gly863Val, has been reported in individuals with osteogenesis imperfecta (Pyott, 2011). Based on available information, the p.Gly863Asp variant is considered to be likely pathogenic.

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