ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) (rs794727411)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623848 SCV000741273 uncertain significance Inborn genetic diseases 2016-03-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Baylor Miraca Genetics Laboratories, RCV000415108 SCV000328711 likely pathogenic Episodic ataxia type 2; Familial hemiplegic migraine type 1 2014-10-16 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in CACNA1A (NM_001174080.1, c.4177G>A) and SLC26A1 (NM_022042.2, c.1487T>G) in one individual with reported features of intractable epilepsy, global developmental delay, tremor, ataxia, hyperlipidemia, growth hormone deficiency, and stable right optic nerve glioma. Missense and truncating variants in CACNA1A have been reported in patients with epilepsy (PMID:18940563;PMID:21703448)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176622 SCV000228310 pathogenic not provided 2017-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000176622 SCV000322140 pathogenic not provided 2018-12-14 criteria provided, single submitter clinical testing The V1393M variant in the CACNA1A gene has been reported previously as a de novo variant in an individual with childhood onset ataxia, seizures, intellectual disability, and cerebellar atrophy (Travaglini et al., 2017). The V1393M variant is not observed in large population cohorts (Lek et al., 2016). The V1393M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. The V1393M variant is within transmembrane segment S5 in the third homologous domain of the protein. We interpret V1393M as a pathogenic variant.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000604986 SCV000784524 likely pathogenic Epileptic encephalopathy, early infantile, 42 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662176 SCV000784525 likely pathogenic Migraine 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662177 SCV000784526 likely pathogenic Episodic ataxia type 2 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662178 SCV000784527 likely pathogenic Spinocerebellar ataxia 6 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662179 SCV000784528 likely pathogenic Familial hemiplegic migraine type 1 2018-03-05 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000604986 SCV000731256 likely pathogenic Epileptic encephalopathy, early infantile, 42 2017-12-14 criteria provided, single submitter research

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