ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del)

dbSNP: rs772989979
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176171 SCV000227786 benign not specified 2015-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000176171 SCV000569616 benign not specified 2018-01-17 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.
Invitae RCV000542519 SCV000656757 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000176171 SCV001476224 benign not specified 2020-07-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262772 SCV002543882 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing CACNA1A: BS1
Ambry Genetics RCV002453622 SCV002615068 benign Inborn genetic diseases 2018-04-20 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics RCV002500485 SCV002813052 likely benign Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2022-03-30 criteria provided, single submitter clinical testing

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