ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.2864G>A (p.Arg955His) (rs112172548)

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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 RCV000347536 SCV000334810 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing
Invitae RCV000689418 SCV000817066 uncertain significance Bethlem myopathy 1 2018-02-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 955 of the COL6A3 protein (p.Arg955His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs112172548, ExAC 0.01%). This variant has been reported in an individual affected with intermediate collagen VI-related myopathy (PMID: 24271325). ClinVar contains an entry for this variant (Variation ID: 283020). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine 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 and their clinical significance is uncertain. 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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