ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter)

gnomAD frequency: 0.00001  dbSNP: rs794727680
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178588 SCV000230700 pathogenic not provided 2014-06-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462287 SCV004204745 likely pathogenic Polycystic kidney disease 4 2022-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003611503 SCV004519688 pathogenic Autosomal recessive polycystic kidney disease 2023-02-24 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: 197534). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is present in population databases (rs794727680, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Trp2398*) 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).

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