ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.2692C>G (p.Leu898Val)

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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 RCV004547220 SCV005042591 uncertain significance Focal segmental glomerulosclerosis 2 criteria provided, single submitter clinical testing The missense variant c.2692C>Gp.Leu898Val in TRPC6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. The amino acid Leucine at position 898 is changed to a Valine changing protein sequence and it might alter its composition and physicochemical properties. The variant is predicted to be damaging by SIFT. The amino acid change p.Leu898Val in TRPC6 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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