ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2887G>A (p.Gly963Ser)

dbSNP: rs1215825701
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001586411 SCV001812865 pathogenic not provided 2020-12-17 criteria provided, single submitter clinical testing Occurs in the triple helical domain and replaces the glycine in the canonical GlyX-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 (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University RCV003155420 SCV003844099 likely pathogenic See cases 2021-01-18 no assertion criteria provided research

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