ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6996G>A (p.Glu2332=) (rs775831255)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206564 SCV000259308 uncertain significance Autosomal recessive polycystic kidney disease 2015-07-06 criteria provided, single submitter clinical testing This sequence change affects codon 2332 of the PKHD1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PKHD1 protein. It also falls at the last nucleotide of exon 43 of the PKHD1 mRNA. This variant has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of silent changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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