ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys)

gnomAD frequency: 0.00004  dbSNP: rs745845130
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680513 SCV000807898 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002232815 SCV001372608 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-12-27 criteria provided, single submitter clinical testing
GeneDx RCV001838092 SCV002098185 uncertain significance not provided 2022-02-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002458191 SCV002616712 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-01-31 criteria provided, single submitter clinical testing The p.N1189K variant (also known as c.3567C>A), located in coding exon 50 of the COL5A2 gene, results from a C to A substitution at nucleotide position 3567. The asparagine at codon 1189 is replaced by lysine, an amino acid with similar properties. 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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