ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.973C>T (p.Arg325Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044220 SCV001208005 uncertain significance Bethlem myopathy 1 2019-11-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 325 of the COL6A1 protein (p.Arg325Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs764704372, ExAC 0.02%). This variant has not been reported in the literature in individuals with COL6A1-related conditions. 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: "Not Available"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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