ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1820G>C (p.Gly607Ala)

dbSNP: rs1792043985
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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 RCV001240952 SCV001413939 likely pathogenic Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2019-10-02 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 607 of the COL1A2 protein (p.Gly607Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL1A2-related conditions. 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, variants affecting these glycine residues are significantly enriched in individuals with disease (PMID: 9016532, 17078022) compared to the general population (ExAC). 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.

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