ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1691G>A (p.Arg564Gln)

gnomAD frequency: 0.00004  dbSNP: rs757182803
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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) RCV000734904 SCV000863084 uncertain significance not provided 2018-08-22 criteria provided, single submitter clinical testing
Invitae RCV001855824 SCV002146139 uncertain significance Autosomal recessive polycystic kidney disease 2022-03-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 564 of the PKHD1 protein (p.Arg564Gln). This variant is present in population databases (rs757182803, gnomAD 0.008%). 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: 598497). 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 glutamine 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 RCV002485945 SCV002787962 uncertain significance Polycystic kidney disease 4 2022-03-12 criteria provided, single submitter clinical testing

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