ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg)

dbSNP: rs1307732644
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812078 SCV000952380 uncertain significance Autosomal recessive polycystic kidney disease 2019-02-10 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PKHD1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with arginine at codon 3308 of the PKHD1 protein (p.Pro3308Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine.
Fulgent Genetics, Fulgent Genetics RCV002478885 SCV002792903 uncertain significance Polycystic kidney disease 4 2021-07-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000812078 SCV002075531 uncertain significance Autosomal recessive polycystic kidney disease 2018-12-23 no assertion criteria provided clinical testing

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