ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp)

gnomAD frequency: 0.00003  dbSNP: rs756550702
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314295 SCV000738744 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-09-18 criteria provided, single submitter clinical testing The p.N1468D variant (also known as c.4402A>G), located in coding exon 54 of the COL5A2 gene, results from an A to G substitution at nucleotide position 4402. The asparagine at codon 1468 is replaced by aspartic acid, an amino acid with highly 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001868120 SCV002148757 benign Ehlers-Danlos syndrome, classic type, 1 2022-09-01 criteria provided, single submitter clinical testing

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