ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2492C>T (p.Ser831Leu)

gnomAD frequency: 0.00003  dbSNP: rs121912949
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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 RCV002122169 SCV002398704 likely benign not provided 2023-12-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004770406 SCV005380642 uncertain significance not specified 2024-08-12 criteria provided, single submitter clinical testing Variant summary: COL11A2 c.2492C>T (p.Ser831Leu) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 7.2e-05 in 249930 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in COL11A2 causing COL11A2-Related Disorders, allowing no conclusion about variant significance. c.2492C>T has been reported in the literature in an individual affected with COL11A2-Related Disorders (Nishio_2015). These report(s) do not provide unequivocal conclusions about association of the variant with COL11A2-Related Disorders. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 25788563). ClinVar contains an entry for this variant (Variation ID: 1592134). Based on the evidence outlined above, the variant was classified as uncertain significance.

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