ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.368C>G (p.Ser123Ter)

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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 RCV004547352 SCV005042875 likely pathogenic Focal segmental glomerulosclerosis 2 criteria provided, single submitter clinical testing The stop gained c.368C>G p.Ser123Ter variant in TRPC6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.368C>G variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The nucleotide change c.368C>G in TRPC6 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This sequence change creates a premature translational stop signal p.Ser123Ter in the TRPC6 gene. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants in TRPC6 gene have been previously reported to be pathogenic Riehle et al., 2016. However, additional functional studies will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as Likely Pathogenic.

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