ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=)

gnomAD frequency: 0.00006  dbSNP: rs780515850
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725442 SCV000336962 uncertain significance not provided 2017-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000725442 SCV000523096 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Invitae RCV001085198 SCV000775234 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429219 SCV002743905 likely benign Inborn genetic diseases 2018-02-21 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 RCV003985314 SCV004784312 likely benign CACNA1A-related disorder 2019-03-18 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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