ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1604G>T (p.Gly535Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005237017 SCV005884253 likely pathogenic Osteoporosis 2024-12-10 criteria provided, single submitter clinical testing Variant summary: COL1A2 c.1604G>T (p.Gly535Val) results in a non-conservative amino acid change located in the Collagen triple helix repeat region (Uniprot IPR008160) of the encoded protein sequence. This missense variant disrupts a critical glycine residue at position 1 of a Gly-X-Y repeat in the collagenous domain of COL1A2 protein, and at-least one other missense affecting this glycine residue has been reported in patient(s) with skeletal dysplasia (PMID 34091931, p.Gly535Ala). Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251480 control chromosomes. To our knowledge, no occurrence of c.1604G>T in individuals affected with Osteoporosis and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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