ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met)

gnomAD frequency: 0.00026  dbSNP: rs570708095
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732670 SCV001983023 uncertain significance not provided 2023-01-05 criteria provided, single submitter clinical testing 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
Invitae RCV001732670 SCV002384936 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001732670 SCV003831171 uncertain significance not provided 2022-04-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913353 SCV004732576 uncertain significance COL11A2-related disorder 2024-01-19 criteria provided, single submitter clinical testing The COL11A2 c.5087C>T variant is predicted to result in the amino acid substitution p.Thr1696Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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