ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) (rs142146981)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594992 SCV000707652 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing
Counsyl RCV000671717 SCV000796723 uncertain significance Autosomal recessive polycystic kidney disease 2017-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000671717 SCV000897289 uncertain significance Autosomal recessive polycystic kidney disease 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000671717 SCV001319933 uncertain significance Autosomal recessive polycystic kidney disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV000671717 SCV001421666 uncertain significance Autosomal recessive polycystic kidney disease 2019-06-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 3081 of the PKHD1 protein (p.Ile3081Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs142146981, ExAC 0.01%). This variant has been observed in an individual with autosomal recessive polycystic kidney disease (PMID: 12506140). However, in that individual the variant was in cis (on the same allele) with p.Leu2134Pro and in trans with a Pathogenic variant in PKHD1. At this time it is not clear whether the p.Ile3081Val or the p.Leu2134Pro variant was the primary cause of disease in this individual. ClinVar contains an entry for this variant (Variation ID: 501331). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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