ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val)

gnomAD frequency: 0.00004  dbSNP: rs748863662
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706858 SCV000835932 uncertain significance Autosomal recessive polycystic kidney disease 2021-09-16 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 3468 of the PKHD1 protein (p.Ile3468Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs748863662, ExAC 0.03%). This missense change has been observed in individual(s) with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (PMID: 12846734). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Natera, Inc. RCV000706858 SCV002075516 uncertain significance Autosomal recessive polycystic kidney disease 2020-10-22 no assertion criteria provided clinical testing

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