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 benign Collagen VI-related myopathy 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
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 RCV001082860 SCV000657133 likely benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing

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