ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.1829A>C (p.Lys610Thr) (rs768906709)

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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 RCV000725110 SCV000334070 uncertain significance not provided 2015-08-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000264328 SCV000594195 uncertain significance not specified 2016-08-02 criteria provided, single submitter clinical testing
Invitae RCV000691051 SCV000818790 uncertain significance Bethlem myopathy 1 2018-09-26 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 610 of the COL6A1 protein (p.Lys610Thr). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and threonine. This variant is present in population databases (rs768906709, ExAC 0.03%). This variant has not been reported in the literature in individuals with COL6A1-related disease. ClinVar contains an entry for this variant (Variation ID: 282543). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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