ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) (rs35993949)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000449549 SCV000537840 uncertain significance Global developmental delay 2017-02-21 criteria provided, single submitter clinical testing
GeneDx RCV000711314 SCV000581747 uncertain significance not provided 2021-01-04 criteria provided, single submitter clinical testing Reported in cis with G267R in an individual with early onset epileptic encephalopathy, inherited from the individual's mother who was reported to have unexplained epilepsy but not epileptic encephalopathy (Allen et al., 2016) Reported in an individual with temporal lobe epilepsy who was also heterozygous for the G267R variant, but familial segregation information was not included (Sapio et al., 2012) In silico analysis supports that this missense variant has a deleterious effect on protein structure/function This variant is associated with the following publications: (PMID: 32581362, 29358611, 23105115, 26648591)
Invitae RCV001085402 SCV000651981 likely benign Febrile seizures, familial, 11 2020-11-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000711314 SCV000708910 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711314 SCV000841655 uncertain significance not provided 2018-09-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000445558 SCV001325947 uncertain significance Epilepsy, familial temporal lobe, 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Baylor Genetics RCV000445558 SCV001526813 uncertain significance Epilepsy, familial temporal lobe, 5 2018-02-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000445558 SCV000537137 pathogenic Epilepsy, familial temporal lobe, 5 2012-12-14 no assertion criteria provided literature only
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656015 SCV000588291 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003970 SCV001161979 likely pathogenic Seizures; Focal seizures; Menstrual irregularities; Confusion; Palpitations; Periventricular gray matter heterotopia; Abnormal emotion/affect behavior no assertion criteria provided research

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