ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr)

gnomAD frequency: 0.00498  dbSNP: rs79087668
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000118053 SCV000171178 benign not specified 2012-04-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000118053 SCV000230464 benign not specified 2014-07-02 criteria provided, single submitter clinical testing
Invitae RCV000313184 SCV000561675 benign Epilepsy, progressive myoclonic, 1B 2024-01-30 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000118053 SCV000803589 benign not specified 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Ambry Genetics RCV002313917 SCV000847604 benign Inborn genetic diseases 2016-02-22 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genetic Services Laboratory, University of Chicago RCV000118053 SCV000152382 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656031 SCV000588307 pathogenic Childhood epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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