ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)

dbSNP: rs1057516762
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727215 SCV000706665 pathogenic not provided 2017-02-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502424 SCV002787399 likely pathogenic Polycystic kidney disease 4 2024-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409814 SCV003501100 pathogenic Autosomal recessive polycystic kidney disease 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1232Asnfs*8) 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 not present in population databases (gnomAD no frequency). 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: 370781). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV002502424 SCV004204688 likely pathogenic Polycystic kidney disease 4 2024-03-23 criteria provided, single submitter clinical testing
Counsyl RCV000409814 SCV000486184 likely pathogenic Autosomal recessive polycystic kidney disease 2016-04-12 no assertion criteria provided clinical testing

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