ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.5833G>C (p.Val1945Leu) (rs113332380)

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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 RCV000585228 SCV000332816 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404804 SCV000428776 uncertain significance Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000585228 SCV000619393 uncertain significance not provided 2018-10-09 criteria provided, single submitter clinical testing The V1945L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V1945L variant is observed in 32/66,656 (0.05%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved in mammals, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585228 SCV000693044 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
Invitae RCV000653686 SCV000775569 likely benign Bethlem myopathy 1 2018-01-04 criteria provided, single submitter clinical testing

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