ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.2200A>G (p.Thr734Ala) (rs562898957)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624130 SCV000740844 uncertain significance Inborn genetic diseases 2015-10-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Invitae RCV000705701 SCV000834712 uncertain significance Bethlem myopathy 1 2018-05-25 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 734 of the COL6A1 protein (p.Thr734Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs562898957, 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: 520643). 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733720 SCV000861814 uncertain significance not provided 2018-06-13 criteria provided, single submitter clinical testing

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