ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4513A>G (p.Arg1505Gly)

gnomAD frequency: 0.00001  dbSNP: rs1271610315
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732704 SCV000860684 uncertain significance not provided 2018-04-03 criteria provided, single submitter clinical testing
Invitae RCV001295097 SCV001484008 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 1505 of the PKHD1 protein (p.Arg1505Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. 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: 596768). 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 glycine 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000732704 SCV002542182 uncertain significance not provided 2021-10-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001295097 SCV002078104 uncertain significance Autosomal recessive polycystic kidney disease 2018-07-04 no assertion criteria provided clinical testing

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