ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)

gnomAD frequency: 0.00001  dbSNP: rs1344820986
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548550 SCV000629911 pathogenic Autosomal recessive polycystic kidney disease 2024-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp937*) 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 premature translational stop signal has been observed in individual(s) with clinical features of polycystic kidney disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 458592). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001535924 SCV000894383 pathogenic Polycystic kidney disease 4 2022-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001535924 SCV001752576 pathogenic Polycystic kidney disease 4 2021-06-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001535924 SCV002018820 pathogenic Polycystic kidney disease 4 2021-01-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV001535924 SCV004204567 pathogenic Polycystic kidney disease 4 2023-08-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925600 SCV004746141 pathogenic PKHD1-related condition 2023-10-25 criteria provided, single submitter clinical testing The PKHD1 c.2811G>A variant is predicted to result in premature protein termination (p.Trp937*). This variant has been reported to be pathogenic for autosomal recessive polycystic kidney disease (ARPKD) (see for example at Bullich et al. 2018. PubMed ID: 29801666, supplementary table 1). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in PKHD1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Counsyl RCV000548550 SCV001132459 likely pathogenic Autosomal recessive polycystic kidney disease 2014-01-02 no assertion criteria provided clinical testing
Natera, Inc. RCV000548550 SCV002081015 pathogenic Autosomal recessive polycystic kidney disease 2017-11-30 no assertion criteria provided clinical testing

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