ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5149G>A (p.Ala1717Thr)

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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 RCV004720691 SCV005329584 uncertain significance Ullrich congenital muscular dystrophy 1A 2023-05-20 criteria provided, single submitter clinical testing The missense c.5149G>A (p.Ala1717Thr) variant in the COL6A3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.0007%) in the gnomAD Exomes. The amino acid Alanine at position 1717 is changed to a Threonine changing protein sequence and it might alter its composition and physico-chemical properties. Computational evidence (Polyphen - Damaging, SIFT - Tolerated and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The amino acid change p.Ala1717Thr in COL6A3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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