ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.9508G>A (p.Gly3170Arg) (rs568632361)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000382244 SCV000341841 uncertain significance not provided 2017-03-02 criteria provided, single submitter clinical testing
Invitae RCV000535416 SCV000657458 uncertain significance Bethlem myopathy 1 2017-01-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 3170 of the COL6A3 protein (p.Gly3170Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a COL6A3-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Deleterious"; PolyPhen-2: "Unknown"; Align-GVGD: "Class C0"). The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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