ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.8978G>A (p.Arg2993His) (rs201888442)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000658012 SCV000336056 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
Invitae RCV000526290 SCV000657443 likely benign Bethlem myopathy 1 2017-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000658012 SCV000779783 uncertain significance not provided 2018-05-07 criteria provided, single submitter clinical testing The R2993H variant in the COL6A3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R2993H variant is observed in 15/25792 (0.058%) alleles from individuals of Finnish background, and 75/276520 total alleles in large population cohorts and no individuals were reported to be homozygous (Lek et al., 2016). The R2993H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret R2993H as a variant of uncertain significance.

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