ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1492del (p.Gln498fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003427875 SCV004117181 pathogenic PKHD1-related disorder 2022-11-28 criteria provided, single submitter clinical testing The PKHD1 c.1492delC variant is predicted to result in a frameshift and premature protein termination (p.Gln498Argfs*9). 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. Frameshift variants in PKHD1 are expected to be pathogenic, and therefore this variant is interpreted as pathogenic.
Baylor Genetics RCV003459859 SCV004204605 likely pathogenic Polycystic kidney disease 4 2023-07-26 criteria provided, single submitter clinical testing
Invitae RCV003611647 SCV004422084 pathogenic Autosomal recessive polycystic kidney disease 2023-01-12 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.Gln498Argfs*9) 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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