ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5574T>G (p.Phe1858Leu)

dbSNP: rs1562140096
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734779 SCV000862948 uncertain significance not provided 2018-08-14 criteria provided, single submitter clinical testing
Invitae RCV001071329 SCV001236625 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 1858 of the PKHD1 protein (p.Phe1858Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 598398). 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 leucine 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. RCV001071329 SCV001459189 uncertain significance Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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