ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8629del (p.Ser2877fs)

gnomAD frequency: 0.00001  dbSNP: rs779168950
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004191 SCV001163024 pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing
Invitae RCV001004191 SCV002240841 pathogenic Autosomal recessive polycystic kidney disease 2021-12-24 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: 813375). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is present in population databases (rs779168950, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Ser2877Glnfs*7) 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 RCV002489514 SCV002809708 likely pathogenic Polycystic kidney disease 4 2022-03-07 criteria provided, single submitter clinical testing
Genomics And Bioinformatics Analysis Resource, Columbia University RCV002489514 SCV004024107 likely pathogenic Polycystic kidney disease 4 no assertion criteria provided research

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