ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)

dbSNP: rs757099749
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410535 SCV000485781 likely pathogenic Autosomal recessive polycystic kidney disease 2016-02-12 criteria provided, single submitter clinical testing
Invitae RCV000410535 SCV001398604 pathogenic Autosomal recessive polycystic kidney disease 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu3301*) 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). This variant is present in population databases (rs757099749, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 370453). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002505992 SCV002814809 pathogenic Polycystic kidney disease 4 2021-08-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV002505992 SCV004204737 likely pathogenic Polycystic kidney disease 4 2023-01-21 criteria provided, single submitter clinical testing

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