ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9219G>A (p.Trp3073Ter)

dbSNP: rs761075492
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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 RCV002037844 SCV002228922 pathogenic Autosomal recessive polycystic kidney disease 2021-10-03 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 clinical features of polycystic kidney disease (PMID: 30595564). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp3073*) 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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