ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu)

dbSNP: rs1786704837
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001338571 SCV001532251 uncertain significance Autosomal recessive polycystic kidney disease 2020-01-19 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PKHD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 2895 of the PKHD1 protein (p.Lys2895Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid.
Fulgent Genetics, Fulgent Genetics RCV002476562 SCV002798278 uncertain significance Polycystic kidney disease 4 2022-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001338571 SCV002077967 uncertain significance Autosomal recessive polycystic kidney disease 2020-11-02 no assertion criteria provided clinical testing

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