ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.290G>T (p.Arg97Leu)

dbSNP: rs1197947308
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773329 SCV000907022 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-30 criteria provided, single submitter clinical testing This missense variant replaces arginine with leucine at codon 97 of the COL3A1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, 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 not been identified 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001059583 SCV001224210 uncertain significance Ehlers-Danlos syndrome, type 4 2019-01-14 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with COL3A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with leucine at codon 97 of the COL3A1 protein (p.Arg97Leu). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and leucine.
All of Us Research Program, National Institutes of Health RCV001059583 SCV004832851 uncertain significance Ehlers-Danlos syndrome, type 4 2023-06-26 criteria provided, single submitter clinical testing This missense variant replaces arginine with leucine at codon 97 of the COL3A1 protein. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). 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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