ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter)

dbSNP: rs769645972
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001935120 SCV002174634 pathogenic Autosomal recessive polycystic kidney disease 2022-02-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is present in population databases (rs769645972, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Leu2505*) 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 RCV002507000 SCV002810987 pathogenic Polycystic kidney disease 4 2022-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV002507000 SCV004202252 pathogenic Polycystic kidney disease 4 2023-10-09 criteria provided, single submitter clinical testing

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