ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1403G>T (p.Arg468Met)

gnomAD frequency: 0.00001  dbSNP: rs765645325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001297139 SCV001486125 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with methionine at codon 468 of the PKHD1 protein (p.Arg468Met). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and methionine. This variant is present in population databases (rs765645325, ExAC 0.001%). 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: "Possibly 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.
Natera, Inc. RCV001297139 SCV002081082 uncertain significance Autosomal recessive polycystic kidney disease 2018-11-29 no assertion criteria provided clinical testing

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