ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7911+5C>A

gnomAD frequency: 0.00012  dbSNP: rs199953233
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538644 SCV000629933 uncertain significance Autosomal recessive polycystic kidney disease 2021-09-24 criteria provided, single submitter clinical testing This sequence change falls in intron 49 of the PKHD1 gene. It does not directly change the encoded amino acid sequence of the PKHD1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs199953233, ExAC 0.05%). This variant has not been reported in the literature in individuals with PKHD1-related disease. ClinVar contains an entry for this variant (Variation ID: 458606). Nucleotide substitutions within 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 is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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.
PreventionGenetics, part of Exact Sciences RCV003962476 SCV004778363 likely benign PKHD1-related disorder 2022-11-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000538644 SCV001459183 uncertain significance Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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