ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3262C>G (p.Gln1088Glu)

gnomAD frequency: 0.00001  dbSNP: rs1328301317
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047155 SCV001211092 uncertain significance Ehlers-Danlos syndrome, type 4 2020-01-03 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with COL3A1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with glutamic acid at codon 1088 of the COL3A1 protein (p.Gln1088Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid.
Color Diagnostics, LLC DBA Color Health RCV001189774 SCV001357134 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-09 criteria provided, single submitter clinical testing This missense variant replaces glutamine with glutamic acid at codon 1088 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 been identified in 1/31370 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.
All of Us Research Program, National Institutes of Health RCV001047155 SCV004829505 uncertain significance Ehlers-Danlos syndrome, type 4 2023-04-03 criteria provided, single submitter clinical testing This missense variant replaces glutamine with glutamic acid at codon 1088 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 cardiovascular disorders in the literature. This variant has been identified in 1/31370 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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