ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA

dbSNP: rs1562581286
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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) RCV000733307 SCV000861355 pathogenic not provided 2018-05-15 criteria provided, single submitter clinical testing
Invitae RCV000794567 SCV000933983 likely pathogenic Autosomal recessive polycystic kidney disease 2023-02-14 criteria provided, single submitter clinical testing This sequence change affects a splice site in intron 42 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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: 597249). 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.
Revvity Omics, Revvity Omics RCV001784363 SCV002024651 likely pathogenic Polycystic kidney disease 4 2021-06-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV001784363 SCV004202246 likely pathogenic Polycystic kidney disease 4 2023-10-14 criteria provided, single submitter clinical testing

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