ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln)

gnomAD frequency: 0.00011  dbSNP: rs756192425
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724353 SCV000331729 uncertain significance not provided 2015-12-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000281320 SCV000614765 uncertain significance not specified 2017-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000692133 SCV000819942 uncertain significance Epilepsy, progressive myoclonic, 1B 2023-12-18 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 534 of the PRICKLE1 protein (p.Arg534Gln). This variant is present in population databases (rs756192425, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with PRICKLE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 281207). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PRICKLE1 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV000281320 SCV002707879 uncertain significance not specified 2019-03-29 criteria provided, single submitter clinical testing The p.R534Q variant (also known as c.1601G>A), located in coding exon 6 of the PRICKLE1 gene, results from a G to A substitution at nucleotide position 1601. The arginine at codon 534 is replaced by glutamine, an amino acid with highly similar properties. This nucleotide position is highly conserved in available vertebrate species. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000281320 SCV000805019 uncertain significance not specified 2017-09-01 no assertion criteria provided clinical testing

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