ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2117G>A (p.Gly706Glu)

dbSNP: rs1688402397
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190319 SCV001357778 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-05-07 criteria provided, single submitter clinical testing This missense variant replaces glycine with glutamic acid at codon 706 of the COL3A1 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001876222 SCV002120601 uncertain significance Ehlers-Danlos syndrome, type 4 2021-06-10 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL3A1 protein function. This variant has been observed in individual(s) with clinical features of Ehlers-Danlos syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 927201). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 706 of the COL3A1 protein (p.Gly706Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.

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