ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2951G>A (p.Arg984His)

gnomAD frequency: 0.00001  dbSNP: rs147271219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002260742 SCV002540332 uncertain significance not provided 2021-12-30 criteria provided, single submitter clinical testing 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; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease (HGMD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002260742 SCV003457776 benign not provided 2022-03-29 criteria provided, single submitter clinical testing

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