ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002881971 SCV003243744 pathogenic Autosomal recessive polycystic kidney disease 2024-02-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1928*) 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. ClinVar contains an entry for this variant (Variation ID: 2036504). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464632 SCV004204735 likely pathogenic Polycystic kidney disease 4 2024-03-01 criteria provided, single submitter clinical testing

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