ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.5393G>A (p.Arg1798His) (rs371441617)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727271 SCV000707112 uncertain significance not provided 2017-03-23 criteria provided, single submitter clinical testing
GeneDx RCV000727271 SCV000621091 uncertain significance not provided 2017-09-25 criteria provided, single submitter clinical testing The R1798H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1798H variant is observed in 22/18,870 (0.12%) alleles from individuals of East Asian background (Lek et al., 2016). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function
Invitae RCV000792561 SCV000931865 uncertain significance Bethlem myopathy 1 2018-07-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1798 of the COL6A3 protein (p.Arg1798His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs371441617, ExAC 0.08%). This variant has not been reported in the literature in individuals with COL6A3-related disease. ClinVar contains an entry for this variant (Variation ID: 452297). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; 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.

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