ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.3220G>A (p.Asp1074Asn) (rs778403814)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727405 SCV000618183 uncertain significance not provided 2018-10-11 criteria provided, single submitter clinical testing The D1074N variant in the COL6A3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D1074N variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The D1074N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret D1074N as a variant of uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727405 SCV000708269 uncertain significance not provided 2017-05-03 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661955 SCV000784285 uncertain significance Ullrich congenital muscular dystrophy 1 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661956 SCV000784286 uncertain significance Bethlem myopathy 1 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661957 SCV000784287 uncertain significance Dystonia 27 2018-03-05 criteria provided, single submitter clinical testing

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