ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2797G>A (p.Gly933Arg)

dbSNP: rs1688532582
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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 RCV001233189 SCV001405772 likely pathogenic Ehlers-Danlos syndrome, type 4 2019-11-02 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 COL3A1, variants that affect these glycine residues are significantly enriched in individuals with disease (PMID: 24922459, 25758994) compared to the general population (ExAC). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in an individual affected with Ehlers-Danlos syndrome (PMID: 22019127). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 933 of the COL3A1 protein (p.Gly933Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.

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