ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5261_5262del (p.His1754fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003008448 SCV003313202 pathogenic Autosomal recessive polycystic kidney disease 2022-11-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with polycystic kidney disease (PMID: 33940108). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His1754Argfs*25) 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).

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