ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9727del (p.Ile3243fs)

dbSNP: rs1562221540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388528 SCV001589531 pathogenic Autosomal recessive polycystic kidney disease 2023-08-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 591918). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile3243Phefs*21) 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).
Baylor Genetics RCV003461001 SCV004204778 pathogenic Polycystic kidney disease 4 2022-08-23 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000723101 SCV000854232 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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