ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7177C>T (p.Gln2393Ter)

gnomAD frequency: 0.00001  dbSNP: rs1436814142
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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 RCV001060122 SCV001224786 pathogenic Autosomal recessive polycystic kidney disease 2019-12-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). This variant has been observed in individual(s) with polycystic kidney disease (PMID: 19940839). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln2393*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product.
Natera, Inc. RCV001060122 SCV002078028 pathogenic Autosomal recessive polycystic kidney disease 2021-09-01 no assertion criteria provided clinical testing

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