ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4175G>A (p.Arg1392Lys)

dbSNP: rs863223479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197819 SCV000249911 uncertain significance not provided 2020-12-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 213052; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease (Symoens et al., 2012; Stenson et al., 2014)
Ambry Genetics RCV002315562 SCV000738626 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-08-12 criteria provided, single submitter clinical testing The p.R1392K variant (also known as c.4175G>A), located in coding exon 53 of the COL5A1 gene, results from a G to A substitution at nucleotide position 4175. The arginine at codon 1392 is replaced by lysine, an amino acid with highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002517172 SCV000755918 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2023-08-04 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 1392 of the COL5A1 protein (p.Arg1392Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL5A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 213052). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002492888 SCV002777994 uncertain significance Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2021-10-07 criteria provided, single submitter clinical testing

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