ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3017T>A (p.Met1006Lys)

gnomAD frequency: 0.00009  dbSNP: rs930378570
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002233962 SCV000755919 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001571537 SCV001796036 uncertain significance not provided 2023-08-17 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 has a deleterious effect on protein structure/function
Ambry Genetics RCV002438677 SCV002754260 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-04-21 criteria provided, single submitter clinical testing The p.M1006K variant (also known as c.3017T>A), located in coding exon 43 of the COL5A2 gene, results from a T to A substitution at nucleotide position 3017. The methionine at codon 1006 is replaced by lysine, an amino acid with similar properties. This amino acid position is well 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.

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