ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3491G>A (p.Gly1164Glu) (rs587779431)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000087355 SCV000957846 likely pathogenic Ehlers-Danlos syndrome, type 4 2018-11-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 1164 of the COL3A1 protein (p.Gly1164Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Ehlers-Danlos syndrome (PMID: 10706896, 24922459). This variant is also known G997E in the literature. as ClinVar contains an entry for this variant (Variation ID: 101118). 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, missense variants at these glycine residues are significantly enriched in individuals with disease (PMID: 24922459, 25758994) 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.
Collagen Diagnostic Laboratory,University of Washington RCV000087355 SCV000120237 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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