ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.788_789del (p.Ser263fs)

dbSNP: rs1045491786
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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 RCV001941797 SCV002234755 pathogenic Autosomal recessive polycystic kidney disease 2021-04-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with PKHD1-related conditions (PMID: 26673778). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser263Cysfs*22) 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 RCV005032001 SCV005671050 likely pathogenic Polycystic kidney disease 4 2024-02-15 criteria provided, single submitter clinical testing

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