ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2592+1G>C

dbSNP: rs758812102
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379064 SCV001576793 likely pathogenic Autosomal recessive polycystic kidney disease 2023-08-30 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1067726). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is present in population databases (rs758812102, gnomAD 0.002%). This sequence change affects a donor splice site in intron 24 of the PKHD1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839).
Fulgent Genetics, Fulgent Genetics RCV002504634 SCV002813265 likely pathogenic Polycystic kidney disease 4 2022-04-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV002504634 SCV004202255 likely pathogenic Polycystic kidney disease 4 2023-10-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001379064 SCV002081023 likely pathogenic Autosomal recessive polycystic kidney disease 2019-11-11 no assertion criteria provided clinical testing

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