ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.8189C>A (p.Ala2730Asp) (rs138466455)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177942 SCV000229904 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000177942 SCV000281286 uncertain significance not provided 2015-12-23 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
PreventionGenetics,PreventionGenetics RCV000254307 SCV000310233 uncertain significance not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270502 SCV000428725 benign Collagen VI-related myopathy 2018-01-13 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.
GeneDx RCV000177942 SCV000523314 uncertain significance not provided 2019-01-16 criteria provided, single submitter clinical testing The A2730D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A2730D variant is observed in 102/66722 (0.15%) alleles from individuals of European background, including 1 homozygous individual undergoing testing at GeneDx (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). 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. Additionally, 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, and missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with COL6A3-related disorders (Stenson et al., 2014).
Athena Diagnostics Inc RCV000177942 SCV000613017 uncertain significance not provided 2018-03-20 criteria provided, single submitter clinical testing
Invitae RCV001081264 SCV000657422 likely benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing

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