ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2593-10A>G

gnomAD frequency: 0.00001  dbSNP: rs1050450962
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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) RCV000732633 SCV000860608 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
Invitae RCV001855688 SCV002214581 uncertain significance Autosomal recessive polycystic kidney disease 2021-10-27 criteria provided, single submitter clinical testing This sequence change falls in intron 24 of the PKHD1 gene. It does not directly change the encoded amino acid sequence of the PKHD1 protein. 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: 596714). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002493344 SCV002796894 uncertain significance Polycystic kidney disease 4 2022-05-23 criteria provided, single submitter clinical testing

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