ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.173C>T (p.Thr58Met)

gnomAD frequency: 0.00004  dbSNP: rs770162224
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519601 SCV000618681 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL11A1 gene. The T58M variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T58M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position that is not conserved across species and where methionine is present as the wild type in at least one species.
Labcorp Genetics (formerly Invitae), Labcorp RCV000519601 SCV002217941 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000519601 SCV004235363 uncertain significance not provided 2023-11-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737597 SCV005349587 uncertain significance COL11A1-related disorder 2024-09-26 no assertion criteria provided clinical testing The COL11A1 c.173C>T variant is predicted to result in the amino acid substitution p.Thr58Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of South Asian 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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