ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3542A>C (p.Gln1181Pro)

gnomAD frequency: 0.00013  dbSNP: rs370534700
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001298627 SCV001487690 benign not provided 2023-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001298627 SCV002574556 uncertain significance not provided 2022-03-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Occurs in the triple helical domain at the X 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 X position is not a common mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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