ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3230G>T (p.Gly1077Val) (rs786205477)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001289777 SCV001477765 likely pathogenic none provided 2019-10-07 criteria provided, single submitter clinical testing The COL2A1 c.3230G>T; p.Gly1077Val variant (rs786205477), to our knowledge, is not described in the medical literature but is reported in ClinVar (Variation ID: 191036). This variant is absent from general population databases (Exome Variant Server and Genome Aggregation Database), indicating it is not a common polymorphism. The glycine at codon 1077 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.
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171212 SCV000221409 likely pathogenic not provided no assertion criteria provided research

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