ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1489C>A (p.Pro497Thr) (rs75581470)

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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 RCV000329762 SCV000337217 likely benign not specified 2015-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000766751 SCV000583231 uncertain significance not provided 2018-07-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL6A2 gene. The P497T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P497T variant is observed in 41/8600 (0.5%) alleles from individuals of East Asian background, in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P497T 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. This substitution occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000270832 SCV000436691 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325923 SCV000436692 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000534031 SCV000657109 likely benign Bethlem myopathy 1 2018-01-04 criteria provided, single submitter clinical testing

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