ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser)

gnomAD frequency: 0.00006  dbSNP: rs375197568
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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) RCV000597357 SCV000706024 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
Invitae RCV001219523 SCV001391467 uncertain significance Epilepsy, progressive myoclonic, 1B 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 235 of the PRICKLE1 protein (p.Gly235Ser). This variant is present in population databases (rs375197568, gnomAD 0.01%). 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: 500189). 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. 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 RCV000597357 SCV002541528 uncertain significance not provided 2021-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243210 SCV003966312 uncertain significance Inborn genetic diseases 2023-05-26 criteria provided, single submitter clinical testing Does not currently meet published gene-disease clinical validity criteria. Smith, 2017 Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252362 SCV001428116 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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