ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4932G>A (p.Trp1644Ter)

dbSNP: rs779028446
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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 RCV001034834 SCV001198133 pathogenic Autosomal recessive polycystic kidney disease 2023-06-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1644*) 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. ClinVar contains an entry for this variant (Variation ID: 834198). 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).

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