ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter)

dbSNP: rs2128231908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382258 SCV001580938 pathogenic Autosomal recessive polycystic kidney disease 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln183*) 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 premature translational stop signal has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 29956005). ClinVar contains an entry for this variant (Variation ID: 1070196). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002504639 SCV002809965 pathogenic Polycystic kidney disease 4 2022-01-28 criteria provided, single submitter clinical testing

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