ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1674G>A (p.Ala558=) (rs144334894)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730302 SCV000858030 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000730302 SCV000619899 uncertain significance not provided 2017-08-03 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL6A2 gene. The c.1674 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1674 G>A variant is observed in 6/16494 (0.04%) alleles from individuals of South Asian background and in 16/65728 (0.02%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Several in-silico splice prediction models predict that c.1674 G>A may create a cryptic splice acceptor site which may supplant the natural acceptor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. 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 RCV000393933 SCV000436705 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303949 SCV000436706 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000542500 SCV000657118 likely benign Bethlem myopathy 1 2017-03-30 criteria provided, single submitter clinical testing

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