ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6238A>G (p.Ser2080Gly)

gnomAD frequency: 0.00006  dbSNP: rs528966196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001299973 SCV001489089 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 2080 of the PKHD1 protein (p.Ser2080Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs528966196, ExAC 0.02%). 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 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.
Fulgent Genetics, Fulgent Genetics RCV002486155 SCV002782309 uncertain significance Polycystic kidney disease 4 2022-04-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001299973 SCV002078055 uncertain significance Autosomal recessive polycystic kidney disease 2018-05-22 no assertion criteria provided clinical testing

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