ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer)

dbSNP: rs1581806935
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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 RCV000822887 SCV000963710 pathogenic Autosomal recessive polycystic kidney disease 2023-08-02 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. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Leu1499*) 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).
Fulgent Genetics, Fulgent Genetics RCV002478926 SCV002780246 likely pathogenic Polycystic kidney disease 4 2021-09-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV002478926 SCV004202228 likely pathogenic Polycystic kidney disease 4 2023-10-20 criteria provided, single submitter clinical testing

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