ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10852del (p.Arg3618fs)

dbSNP: rs1554183240
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669151 SCV000793869 likely pathogenic Autosomal recessive polycystic kidney disease 2017-10-06 criteria provided, single submitter clinical testing
Invitae RCV000669151 SCV002976710 pathogenic Autosomal recessive polycystic kidney disease 2023-10-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3618Glufs*8) 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 variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 553654). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003459607 SCV004204800 likely pathogenic Polycystic kidney disease 4 2022-03-31 criteria provided, single submitter clinical testing

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