ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4118dup (p.Met1373fs)

dbSNP: rs752305132
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730556 SCV000858302 pathogenic not provided 2017-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507294 SCV002808742 likely pathogenic Polycystic kidney disease 4 2021-07-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV002507294 SCV004204536 likely pathogenic Polycystic kidney disease 4 2023-09-20 criteria provided, single submitter clinical testing
Invitae RCV003768197 SCV004677168 pathogenic Autosomal recessive polycystic kidney disease 2023-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met1373Ilefs*5) 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 (rs752305132, gnomAD 0.003%). 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: 595103). For these reasons, this variant has been classified as Pathogenic.

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