ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3446G>A (p.Gly1149Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287136 SCV001473786 likely pathogenic none provided 2019-12-11 criteria provided, single submitter clinical testing The COL2A1 c.3446G>A; p.Gly1149Glu variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is [also] absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The glycine at codon 1149 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. This variant disrupts the repeating Gly-X-Y sequence motif of the collagen triple helix and is predicted to impair collagen function (Barat-Houari 2016). Based on available information, this variant is considered to be likely pathogenic. References: Barat-Houari M et al. Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. Hum Mutat. 2016 Jan;37(1):7-15.

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