ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.4103C>T (p.Thr1368Met) (rs116505603)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724314 SCV000233067 uncertain significance not provided 2017-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000180595 SCV000534195 likely benign not specified 2016-12-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000374173 SCV000428807 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000527934 SCV000657303 uncertain significance Bethlem myopathy 1 2018-09-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 1368 of the COL6A3 protein (p.Thr1368Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs116505603, ExAC 0.06%), including at least one homozygous and/or hemizygous individual. This variant has been observed in individuals affected with COL6A3-related conditions (PMID: 29970176, Invitae), however, it has also been seen in a control sample in a study of dystonia patients (PMID: 26004199). ClinVar contains an entry for this variant (Variation ID: 199089). 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: "Tolerated"; PolyPhen-2: "Possibly 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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