ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.911A>G (p.Lys304Arg) (rs1064794736)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485319 SCV000569837 uncertain significance not provided 2018-05-21 criteria provided, single submitter clinical testing The K304R variant in the COL6A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K304R variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved in mammals. A missense variant in a nearby residue (G302R) has been reported in the Human Gene Mutation Database in association with Ullrich congenital muscular dystrophy (Stenson et al., 2014), supporting the functional importance of this region of the protein. However, the K304R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret K304R as a variant of uncertain significance.
GenomeConnect, ClinGen RCV000509096 SCV000606979 not provided COL6A1-related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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