ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr)

gnomAD frequency: 0.00074  dbSNP: rs199745070
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726478 SCV000321494 benign not provided 2020-02-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726478 SCV000344965 uncertain significance not provided 2016-09-09 criteria provided, single submitter clinical testing
Invitae RCV001088856 SCV001098914 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726478 SCV002585713 benign not provided 2022-10-01 criteria provided, single submitter clinical testing CACNA1A: BS1, BS2
Ambry Genetics RCV002321939 SCV002606277 likely benign Inborn genetic diseases 2018-04-25 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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