ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)

dbSNP: rs201380807
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766806 SCV000233321 uncertain significance not provided 2023-01-24 criteria provided, single submitter clinical testing Identified in a patient with non-syndromic thoracic aortic aneurysm/dissection (TAAD) (Sakai et al., 2012); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22001912)
Illumina Laboratory Services, Illumina RCV000355476 SCV000425495 likely benign Ehlers-Danlos syndrome, type 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000181046 SCV000538717 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 1 paper, no segs, ExAC: 3/8646 East Asian chromosomes
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659410 SCV000781221 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000355476 SCV000958207 uncertain significance Ehlers-Danlos syndrome, type 4 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 40 of the COL3A1 protein (p.Ala40Val). This variant is present in population databases (rs201380807, gnomAD 0.02%). This missense change has been observed in individual(s) with aortic aneurysm and/or dissection (PMID: 22001912). ClinVar contains an entry for this variant (Variation ID: 199690). 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. 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.
Color Diagnostics, LLC DBA Color Health RCV001188677 SCV001355803 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-22 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 40 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 been reported in an individual affected with aortic aneurysm and/or dissection (PMID: 22001912). This variant has been identified in 4/250932 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.
Mendelics RCV000181046 SCV002518128 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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