ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3627G>A (p.Leu1209=)

gnomAD frequency: 0.00060  dbSNP: rs182216709
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591380 SCV000708180 uncertain significance not provided 2017-05-03 criteria provided, single submitter clinical testing
Invitae RCV002532613 SCV002937568 uncertain significance Autosomal recessive polycystic kidney disease 2021-09-24 criteria provided, single submitter clinical testing This sequence change affects codon 1209 of the PKHD1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PKHD1 protein. This variant is present in population databases (rs182216709, ExAC 0.2%). This variant has not been reported in the literature in individuals with PKHD1-related disease. ClinVar contains an entry for this variant (Variation ID: 501703). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, 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.

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