ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1493G>A (p.Arg498His) (rs267606749)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710888 SCV000705092 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
Invitae RCV000653500 SCV000775381 uncertain significance Bethlem myopathy 1 2017-12-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 498 of the COL6A2 protein (p.Arg498His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs267606749, ExAC 0.02%). This variant has been observed in an individual affected with Ullrich congenital muscular dystrophy (PMID: 15689448). However, in that individual a likely pathogenic variant was also identified in COL6A2, which suggests that this c.1493G>A variant was not the primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 17168). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Athena Diagnostics Inc RCV000710888 SCV000841196 uncertain significance not provided 2017-11-06 criteria provided, single submitter clinical testing
OMIM RCV000018708 SCV000038991 pathogenic Ullrich congenital muscular dystrophy 1 2009-07-07 no assertion criteria provided literature only

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