ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3198A>C (p.Glu1066Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003306669 SCV004008121 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-29 criteria provided, single submitter clinical testing The p.E1066D variant (also known as c.3198A>C), located in coding exon 43 of the COL3A1 gene, results from an A to C substitution at nucleotide position 3198. The glutamic acid at codon 1066 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005061243 SCV005715707 uncertain significance Ehlers-Danlos syndrome, type 4 2024-09-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 1066 of the COL3A1 protein (p.Glu1066Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2566669). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt COL3A1 protein function with a negative predictive value of 95%. 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.

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