ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11786-3C>A

gnomAD frequency: 0.00001  dbSNP: rs746467881
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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) RCV000729187 SCV000856829 uncertain significance not provided 2018-03-02 criteria provided, single submitter clinical testing
Invitae RCV002533103 SCV003292265 uncertain significance Autosomal recessive polycystic kidney disease 2021-10-14 criteria provided, single submitter clinical testing This sequence change falls in intron 66 of the PKHD1 gene. It does not directly change the encoded amino acid sequence of the PKHD1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs746467881, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.
Revvity Omics, Revvity RCV003133579 SCV003808421 uncertain significance Polycystic kidney disease 4 2023-01-09 criteria provided, single submitter clinical testing

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