ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter)

dbSNP: rs2128203862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390455 SCV001592195 pathogenic Autosomal recessive polycystic kidney disease 2022-12-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1076511). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp664*) 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).
Fulgent Genetics, Fulgent Genetics RCV002493935 SCV002803821 pathogenic Polycystic kidney disease 4 2022-01-19 criteria provided, single submitter clinical testing

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