ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.3502G>A (p.Gly1168Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004818903 SCV005438868 uncertain significance Ullrich congenital muscular dystrophy 1A criteria provided, single submitter clinical testing The observed missense c.3502G>A p.Gly1168Arg variant in COL6A3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly1168Arg variant is present with allele frequency of 0.0008% in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Computational evidence Polyphen - Probably Damaging, SIFT - Tolerated and MutationTaster - Disease causing predicts conflicting evidence on protein structure and function for this variant. The reference amino acid of p.Gly1168Arg in COL6A3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Gly at position 1168 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance VUS.

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