ClinVar Miner

Submissions for variant NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe) (rs200092211)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724000 SCV000224258 uncertain significance not provided 2014-08-13 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515346 SCV000611380 uncertain significance Epilepsy, idiopathic generalized 9; Episodic ataxia, type 5 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000724000 SCV000329192 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing The S2F variant of unknown significance has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The 1000 Genomes Project reports S2F was observed in 1/214 alleles (0.5%) from individuals of Italian background (McVean et al., 2012). The S2F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution alters a highly conserved position in the N-terminal region of the CACNB4 protein, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, to date only a small number of substitutions in CACNB4 have been published in association with epilepsy, and no pathogenic variants have been reported in the N-terminal region of the protein (Escayg et al., 2000; Ohmori et al., 2008). Therefore, based on the currently available information, it is unclear whether S2F is a pathogenic or a rare benign variant.
Genetic Services Laboratory, University of Chicago RCV000195021 SCV000246842 uncertain significance not specified 2015-08-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286296 SCV000417261 likely benign Episodic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341315 SCV000417262 likely benign Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000462408 SCV000562362 likely benign Idiopathic generalized epilepsy 2017-12-19 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660363 SCV000782433 uncertain significance Epilepsy, idiopathic generalized 9 2016-03-31 criteria provided, single submitter clinical testing

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