ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.1907A>G (p.Asn636Ser)

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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 RCV004764366 SCV005373668 uncertain significance COG6-congenital disorder of glycosylation 2023-05-20 criteria provided, single submitter clinical testing The missense variant c.1907A>G (p.Asn636Ser) in the COG6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Asparagine at position 636 is changed to a Serine changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen, SIFT and MutationTaster) predict no damaging effect on protein structure and function for this variant. The amino acid change p.Asn636Ser in COG6 is predicted as conserved by PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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