ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3848C>A (p.Ser1283Ter)

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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 RCV003504538 SCV004293758 pathogenic Autosomal recessive polycystic kidney disease 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1283*) 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 premature translational stop signal has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 15805161). For these reasons, this variant has been classified as Pathogenic.

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