ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003463237 SCV004204554 likely pathogenic Polycystic kidney disease 4 2024-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003611655 SCV004488178 pathogenic Autosomal recessive polycystic kidney disease 2022-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu3819*) 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). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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