ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.1090dup (p.Ser364fs)

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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 RCV003337973 SCV004048448 likely pathogenic Focal segmental glomerulosclerosis 2 criteria provided, single submitter clinical testing The frameshift c.1090dup (p.Ser364LysfsTer8) variant in TRPC6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser364LysfsTer8 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been reported previously to be disease causing (Reiser et al,2005). For these reasons, this variant has been classified as Likely Pathogenic.

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