ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.317dup (p.Ala106_Glu107insTer)

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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 RCV004720669 SCV005329501 uncertain significance Focal segmental glomerulosclerosis 2 2023-05-20 criteria provided, single submitter clinical testing The observed frameshift c.317dup(p.Glu107Ter) variant in TRPC6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.317dup variant is absent in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TRPC6 gene cause disease. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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