ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6126G>A (p.Thr2042=)

gnomAD frequency: 0.00766  dbSNP: rs7249722
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441566 SCV000523003 benign not specified 2017-02-23 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 RCV001080158 SCV000656781 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710971 SCV000841287 benign not provided 2017-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311480 SCV000845851 benign Inborn genetic diseases 2016-06-21 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.
PreventionGenetics, part of Exact Sciences RCV003985334 SCV004721355 benign CACNA1A-related disorder 2019-06-14 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000441566 SCV001929758 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000441566 SCV001967057 benign not specified no assertion criteria provided clinical testing

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