ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV003480475 SCV004226784 likely pathogenic not provided 2023-06-01 criteria provided, single submitter clinical testing PM2_supporting, PVS1
Invitae RCV003611658 SCV004445686 pathogenic Autosomal recessive polycystic kidney disease 2023-06-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3697*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PKHD1-related conditions.

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