ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu)

gnomAD frequency: 0.00145  dbSNP: rs201612257
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712239 SCV000523551 benign not provided 2019-07-25 criteria provided, single submitter clinical testing
Invitae RCV000653356 SCV000775235 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000424000 SCV000855942 likely benign not specified 2017-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339021 SCV002618650 likely benign Inborn genetic diseases 2018-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003985335 SCV004765428 likely benign CACNA1A-related disorder 2023-12-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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