ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.511G>A (p.Gly171Arg) (rs200710788)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000723333 SCV000854730 uncertain significance COL6A2-related disorder 2018-07-18 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725047 SCV000333499 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000725047 SCV000568740 uncertain significance not provided 2019-01-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL6A2 gene. The c.511 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 24/9778 (0.25%) alleles from individuals of Ashkenazi Jewish background in large population cohorts (Lek et al., 2016). Multiple in-silico splice prediction models predict that c.511 G>A may create a new cryptic splice acceptor site which may supplant the natural splice acceptor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change on splicing is unknown. If c.511 G>A does not alter splicing, it will result in the G171R missense change, which is a non-conservative amino acid substitution that is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000329881 SCV000436635 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386454 SCV000436636 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000537013 SCV000657209 likely benign Bethlem myopathy 1 2017-12-12 criteria provided, single submitter clinical testing

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