ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9723dup (p.Gly3242fs)

dbSNP: rs1582436832
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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 RCV000803076 SCV000942934 pathogenic Autosomal recessive polycystic kidney disease 2018-09-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PKHD1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly3242Trpfs*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). For these reasons, this variant has been classified as Pathogenic.

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