ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2587C>T (p.Arg863Cys)

gnomAD frequency: 0.00001  dbSNP: rs568639668
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772668 SCV001993268 uncertain significance not provided 2019-08-09 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
All of Us Research Program, National Institutes of Health RCV004009001 SCV004830012 uncertain significance Ehlers-Danlos syndrome, type 4 2023-08-23 criteria provided, single submitter clinical testing This missense variant replaces arginine with cysteine at codon 863 of the COL3A1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with COL3A1-related disorders in the literature. This variant has been identified in 2/251334 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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