ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7636del (p.Leu2546fs)

dbSNP: rs1775351921
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214097 SCV001385762 pathogenic Autosomal recessive polycystic kidney disease 2019-09-15 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 not been reported in the literature in individuals with PKHD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu2546Phefs*33) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV003462722 SCV004204576 likely pathogenic Polycystic kidney disease 4 2023-08-20 criteria provided, single submitter clinical testing

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