ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His)

gnomAD frequency: 0.00003  dbSNP: rs747653593
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314283 SCV000738725 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-01-05 criteria provided, single submitter clinical testing The p.R1283H variant (also known as c.3848G>A), located in coding exon 51 of the COL5A2 gene, results from a G to A substitution at nucleotide position 3848. The arginine at codon 1283 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is 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 RCV002233027 SCV001556335 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-08-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144398 SCV003833739 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2019-02-21 criteria provided, single submitter clinical testing

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