ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4105dup (p.Arg1369fs)

dbSNP: rs1581810497
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004205 SCV001163049 pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001004205 SCV002227723 pathogenic Autosomal recessive polycystic kidney disease 2023-06-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1369Profs*9) 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 premature translational stop signal has been observed in individual(s) with clinical features of polycystic kidney disease (PMID: 24162162). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 813385).
Baylor Genetics RCV003467572 SCV004204606 pathogenic Polycystic kidney disease 4 2023-07-24 criteria provided, single submitter clinical testing

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