ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1346C>G (p.Pro449Arg) (rs886044030)

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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 RCV000349190 SCV000343097 uncertain significance not provided 2016-06-19 criteria provided, single submitter clinical testing
Invitae RCV000794402 SCV000933807 uncertain significance Bethlem myopathy 1 2018-12-10 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 449 of the COL6A2 protein (p.Pro449Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with COL6A2-related disease. ClinVar contains an entry for this variant (Variation ID: 288863). 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: "Possibly Damaging"; 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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