ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg)

gnomAD frequency: 0.00002  dbSNP: rs962170388
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002231284 SCV000631446 benign Ehlers-Danlos syndrome, classic type, 1 2023-08-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000526749 SCV000897496 uncertain significance Ehlers-Danlos syndrome, classic type 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001775851 SCV002013615 uncertain significance not provided 2021-07-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 459654; Landrum et al., 2016)
Breakthrough Genomics, Breakthrough Genomics RCV001775851 SCV005190572 uncertain significance not provided criteria provided, single submitter not provided
Ambry Genetics RCV004822094 SCV005564206 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-09-13 criteria provided, single submitter clinical testing The p.G431R variant (also known as c.1291G>A), located in coding exon 8 of the COL5A1 gene, results from a G to A substitution at nucleotide position 1291. The glycine at codon 431 is replaced by arginine, an amino acid with dissimilar properties. This variant has been reported in a coronary artery dissection cohort and in a high myopia cohort (Zekavat SM et al. JAMA Cardiol, 2022 Apr;7:396-406; Liu Y et al. Sci Rep, 2023 Oct;13:18347). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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