ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6352G>A (p.Glu2118Lys)

gnomAD frequency: 0.00006  dbSNP: rs751529187
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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) RCV000732436 SCV000860396 uncertain significance not provided 2018-03-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499365 SCV002806210 uncertain significance Polycystic kidney disease 4 2021-12-07 criteria provided, single submitter clinical testing
Invitae RCV003106043 SCV003782015 uncertain significance Autosomal recessive polycystic kidney disease 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 2118 of the PKHD1 protein (p.Glu2118Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs751529187, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. 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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