ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.2191C>T (p.Arg731Cys) (rs398123635)

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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 RCV000079786 SCV000111669 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383575 SCV000436553 uncertain significance Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000794035 SCV000933418 uncertain significance Bethlem myopathy 1 2018-10-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 731 of the COL6A1 protein (p.Arg731Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs398123635, ExAC 0.02%). This variant has not been reported in the literature in individuals with COL6A1-related disease. ClinVar contains an entry for this variant (Variation ID: 93849). 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: "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.

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