ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.602+1G>A

dbSNP: rs1554223950
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597077 SCV000702253 pathogenic not provided 2016-09-27 criteria provided, single submitter clinical testing
Invitae RCV001378086 SCV001575574 likely pathogenic Autosomal recessive polycystic kidney disease 2023-10-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 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). 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: 497635). 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 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.
Baylor Genetics RCV003471952 SCV004202224 pathogenic Polycystic kidney disease 4 2023-10-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001378086 SCV002083400 likely pathogenic Autosomal recessive polycystic kidney disease 2017-08-31 no assertion criteria provided clinical testing

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