ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1453C>A (p.Leu485Ile)

dbSNP: rs536428525
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002021823 SCV002235310 benign not provided 2022-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538677 SCV004116975 uncertain significance COL11A1-related disorder 2022-12-22 criteria provided, single submitter clinical testing The COL11A1 c.1453C>A variant is predicted to result in the amino acid substitution p.Leu485Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0055% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-103481259-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GeneDx RCV002021823 SCV005080487 uncertain significance not provided 2023-11-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782833 SCV005395496 uncertain significance not specified 2024-09-09 criteria provided, single submitter clinical testing Variant summary: COL11A1 c.1453C>A (p.Leu485Ile) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 247958 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1453C>A in individuals affected with Stickler Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1450766). Based on the evidence outlined above, the variant was classified as uncertain significance.

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