ClinVar Miner

Submissions for variant NM_000495.5(COL4A5):c.584G>T (p.Gly195Val) (rs104886061)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522738 SCV000620649 pathogenic not provided 2017-08-30 criteria provided, single submitter clinical testing The G195V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. G195V is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). G195V occurs in the triple helical domain at a position that is conserved across species and replaces the Glycine in the canonical Gly-X-Y repeat. Variants in these Glycines result in poor winding of the collagen triple helix and a less functional protein. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in the same glycine (G195D) and nearby glycine residues (G192R/E, G198E) have been reported in the Human Gene Mutation Database in association with Alport syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. In summary, we interpret this variant as pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000625582 SCV000746081 likely pathogenic Alport syndrome 1, X-linked recessive 2017-09-18 no assertion criteria provided clinical testing

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