ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2285G>T (p.Gly762Val)

dbSNP: rs587779541
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000087482 SCV001576311 likely pathogenic Ehlers-Danlos syndrome, type 4 2023-07-29 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 762 of the COL3A1 protein (p.Gly762Val). This variant is not present in population databases (gnomAD no frequency). 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. This variant disrupts the triple helix domain of COL3A1. 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). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 101245). This missense change has been observed in individual(s) with vascular Ehlers-Danlos syndrome (PMID: 24922459, 25758994).
Collagen Diagnostic Laboratory, University of Washington RCV000087482 SCV000120369 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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