ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3926A>G (p.Asn1309Ser)

dbSNP: rs1060500201
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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 RCV000465760 SCV000541808 uncertain significance Ehlers-Danlos syndrome, type 4 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1309 of the COL3A1 protein (p.Asn1309Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002374740 SCV002623748 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-06-17 criteria provided, single submitter clinical testing The p.N1309S variant (also known as c.3926A>G), located in coding exon 49 of the COL3A1 gene, results from an A to G substitution at nucleotide position 3926. The asparagine at codon 1309 is replaced by serine, 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 alteration remains unclear.
GeneDx RCV004722760 SCV005333856 uncertain significance not provided 2024-03-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD)

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