ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3200G>A (p.Ser1067Asn)

dbSNP: rs886039067
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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 RCV002311084 SCV000319887 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2015-07-21 criteria provided, single submitter clinical testing The p.S1067N variant (also known as c.3200G>A), located in coding exon 43 of the COL3A1 gene, results from a G to A substitution at nucleotide position 3200. The serine at codon 1067 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly 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 variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000802036 SCV000941844 uncertain significance Ehlers-Danlos syndrome, type 4 2018-12-20 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 1067 of the COL3A1 protein (p.Ser1067Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine. This variant has not been reported in the literature in individuals with COL3A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 264159). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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