ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3202A>T (p.Arg1068Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003397560 SCV004105587 pathogenic PKHD1-related disorder 2023-07-21 criteria provided, single submitter clinical testing The PKHD1 c.3202A>T variant is predicted to result in premature protein termination (p.Arg1068*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in PKHD1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003611645 SCV004467717 pathogenic Autosomal recessive polycystic kidney disease 2023-05-13 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1068*) 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).

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