ClinVar Miner

Submissions for variant NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)

gnomAD frequency: 0.00004  dbSNP: rs387906989
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679893 SCV000807311 pathogenic Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory maternally inherited in a 2-year-old female with speech delay, regression, hypoglycemia, abnormal MRI, possible seizures
Mendelics RCV002247388 SCV002519209 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Clinical Genomics Laboratory, Washington University in St. Louis RCV004555849 SCV005045037 uncertain significance not provided 2024-04-17 criteria provided, single submitter clinical testing The PRICKLE2 c.1813G>T (p.Val605Phe) variant has been observed in two patients with myoclonic epilepsy, developmental regression and episodes concerning seizures (Tao H et al., PMID: 21276947; Yang Y et al., PMID: 25326635). This variant is only observed on 3/251,414 alleles in the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors are uncertain as to the impact of this variant on PRICKLE2 function. This variant has been reported in the ClinVar database as a germline variant of uncertain significance by two submitters and pathogenic by one submitter in an individual with speech delay, regression, hypoglycemia, abnormal brain MRI, and possible seizures. Due to limited information, the clinical significance of this variant is uncertain.
OMIM RCV000023710 SCV000045001 uncertain significance Progressive myoclonic epilepsy type 5 2011-02-11 no assertion criteria provided literature only

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