ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3407G>A (p.Arg1136Gln) (rs562950263)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196529 SCV000249982 uncertain significance not provided 2013-01-17 criteria provided, single submitter clinical testing TAAD is a genetically heterogeneous disorder characterized by aortic dilatation, aneurysms, dissections and/or aneurysms of other major arteries. Approximately 4% of patients with autosomal dominant Ehlers-Danlos syndrome, classic type, have been reported to have a mutation in the COL5A2 gene (Malfait F et al., 2011). The Arg1136Gln variant in the COL5A2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Arg1136Gln results in a semi-conservative amino acid substitution of a positively charged Arginine with a neutral, polar Glutamine at a position that is conserved in mammals. One mutation in a nearby codon (Gly1146Ala) has been reported in association with Ehlers Danlos syndrome, supporting the functional importance of this region of the protein. The Arg1136Gln variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, in silico analysis predicts Arg1136Gln is benign to the protein structure/function. With the clinical and molecular information available at this time, we cannot definitively determine if Arg1136Gln is a disease-causing mutation or a rare benign variant. This variant was found in TAAD.
Invitae RCV000634679 SCV000756013 likely benign Ehlers-Danlos syndrome, classic type 2017-11-14 criteria provided, single submitter clinical testing

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