ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2566G>A (p.Val856Met) (rs368160013)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000149937 SCV000196788 uncertain significance not provided 2018-03-09 criteria provided, single submitter clinical testing p.Val856Met (GTG>ATG): c.2566 G>A in exon 28 in the COL6A2 gene (NM_001849.3). The V856M variant in the COL6A2 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. A nearby missense change, R853Q, has been published in the heterozygous state in a patient with Bethlem myopathy (Lampe et al., 2005). This variant is a conservative substitution of one neutral and non-polar amino acid for another at a residue that is conserved in mammals. In silico analysis was inconsistent with regard to the effect this variant may have on the protein structure/function. The V856M variant was not observed at any significant frequency in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. We interpret V856M as a variant of unknown significance. The variant is found in COL6A2 panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000316783 SCV000436778 uncertain significance Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373797 SCV000436779 uncertain significance Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing

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