ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002695905 SCV002995448 pathogenic Autosomal recessive polycystic kidney disease 2023-06-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1958208). 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.Gln1193*) 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).
Baylor Genetics RCV003464587 SCV004204620 likely pathogenic Polycystic kidney disease 4 2023-06-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003464587 SCV005671418 likely pathogenic Polycystic kidney disease 4 2024-04-18 criteria provided, single submitter clinical testing

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