ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2998A>G (p.Lys1000Glu) (rs151244310)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725669 SCV000338493 uncertain significance not provided 2018-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000725669 SCV000620452 uncertain significance not provided 2017-09-12 criteria provided, single submitter clinical testing The K1000E variant in the COL6A2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. However, it is reported as a variant of uncertain significance in ClinVar by a different clinical laboratory, but additional evidence is not available (ClinVar SCV000338493.2; Landrum et al., 2015). This variant is observed in 5/9092 alleles (0.055%) from individuals of African background, and 6/61,502 alleles (0.010%) from individuals of non-Finnish European background, in the ExAC dataset, with no homozygous control individuals reported (Lek et al., 2016). The K1000E 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 addition, this substitution occurs at a position that is conserved across mammalian species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret K1000E as a variant of uncertain significance.

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