ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.365A>C (p.His122Pro)

gnomAD frequency: 0.00001  dbSNP: rs1315092621
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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 RCV002038565 SCV002312691 likely benign not provided 2022-12-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994381 SCV004813879 uncertain significance not specified 2024-02-14 criteria provided, single submitter clinical testing Variant summary: COL11A1 c.365A>C (p.His122Pro) results in a non-conservative amino acid change located in the Laminin G domain (IPR001791) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.9e-05 in 1612356 control chromosomes gnomAD database (v4.0.0). This frequency does not allow conclusion about variant significance. To our knowledge, no occurrence of c.365A>C 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: 1520194). Based on the evidence outlined above, the variant was classified as uncertain significance.

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