ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5381-9T>G

dbSNP: rs1332944383
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002014738 SCV002232005 uncertain significance Autosomal recessive polycystic kidney disease 2021-11-19 criteria provided, single submitter clinical testing This sequence change falls in intron 33 of the PKHD1 gene. It does not directly change the encoded amino acid sequence of the PKHD1 protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has been observed in individual(s) with clinical features of polycystic kidney disease (PMID: 12846734; Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as IVS33-9T>G. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.

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