ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln)

dbSNP: rs730880066
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002228967 SCV000828695 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 565 of the COL5A2 protein (p.Glu565Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL5A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 180302). 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 COL5A2 protein function with a negative predictive value of 80%. 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 RCV000157149 SCV002712393 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-09-29 criteria provided, single submitter clinical testing The p.E565Q variant (also known as c.1693G>C), located in coding exon 25 of the COL5A2 gene, results from a G to C substitution at nucleotide position 1693. The glutamic acid at codon 565 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002484960 SCV002785641 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2021-07-14 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157149 SCV000206872 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2014-08-25 no assertion criteria provided clinical testing

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