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
Athena Diagnostics Inc RCV000177942 SCV000613017 uncertain significance not provided 2018-03-20 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177942 SCV000229904 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing
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).
Illumina Clinical Services Laboratory,Illumina RCV000270502 SCV000428725 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000550816 SCV000657422 likely benign Bethlem myopathy 1 2017-10-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000254307 SCV000310233 uncertain significance not specified criteria provided, single submitter clinical testing

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