ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2751G>T (p.Val917=) (rs111341650)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724665 SCV000228618 uncertain significance not provided 2018-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000241740 SCV000589718 uncertain significance not specified 2017-05-01 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL6A2 gene. The c.2751 G>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2751 G>T variant is observed in 71/34840 (0.2%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This nucleotide change results in a synonymous amino acid substitution at a position that is not conserved. Multiple in silico algorithms predict c.2751 G>T may create a cryptic splice acceptor site and alter gene splicing; however, in the absence of RNA/functional studies the actual effect of c.2751 G>T on splicing 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 RCV000294726 SCV000436806 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351968 SCV000436807 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000551237 SCV000657170 likely benign Bethlem myopathy 1 2017-09-29 criteria provided, single submitter clinical testing
PreventionGenetics RCV000241740 SCV000308304 likely benign not specified criteria provided, single submitter clinical testing

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