ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys)

gnomAD frequency: 0.00002  dbSNP: rs755429175
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314281 SCV000738721 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-08-08 criteria provided, single submitter clinical testing The p.E1216K variant (also known as c.3646G>A), located in coding exon 51 of the COL5A2 gene, results from a G to A substitution at nucleotide position 3646. The glutamic acid at codon 1216 is replaced by lysine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6500 samples (13000 alleles) with coverage at this position. Based on data from ExAC, the A allele has an overall frequency less than 0.01% (1/99396). This amino acid position is not well 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.
Invitae RCV002232769 SCV000833906 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV003236823 SCV003935636 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
GenomeConnect, ClinGen RCV000704933 SCV001423377 not provided Ehlers-Danlos syndrome, classic type no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 01-20-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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