ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.3106G>T (p.Gly1036Cys)

dbSNP: rs72659325
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002233636 SCV000825874 likely pathogenic Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2018-06-23 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Glycine residues within the Gly-Xaa-Yaa repeats of the triple helix domain are required for the structure and stability of fibrillar collagens (PMID: 7695699, 8218237, 19344236). In COL1A2, missense variants at these glycine residues are significantly enriched in individuals with disease (PMID: 9016532, 17078022) compared to the general population (ExAC). This variant has not been reported in the literature in individuals with COL1A2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with cysteine at codon 1036 of the COL1A2 protein (p.Gly1036Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine.

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