ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3391G>A (p.Gly1131Ser)

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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 RCV004771741 SCV005382459 uncertain significance Autosomal dominant Alport syndrome 2023-05-20 criteria provided, single submitter clinical testing The observed missense variant c.3391G>A(p.Gly1131Ser) in the COL4A3 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 Glycine at position 1131 is changed to a Serine changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The residue is conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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