ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2170C>T (p.Arg724Cys) (rs150098077)

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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 RCV000725902 SCV000340390 uncertain significance not provided 2018-02-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335376 SCV000436747 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391271 SCV000436748 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000725902 SCV000622026 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing The R724C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R724C variant is observed in 100/25,790 (0.4%) alleles from individuals of European background, including 1 homozygous individual, in large population cohorts (Lek et al., 2016). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position that is not conserved.
Invitae RCV000725902 SCV000657133 likely benign not provided 2019-02-20 criteria provided, single submitter clinical testing

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