ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1358G>A (p.Gly453Asp)

dbSNP: rs794727339
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755953 SCV000883637 likely pathogenic not provided 2017-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000755953 SCV003935856 pathogenic not provided 2023-06-21 criteria provided, single submitter clinical testing Occurs in the triple helical domain and replaces a glycine in a canonical Gly-X-Y repeat; missense substitution of a canonical glycine residue is expected to disrupt normal protein folding and function, and this is an established mechanism of disease (Jovanovic et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 10797431, 34007986)

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