ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup)

dbSNP: rs759331923
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000824719 SCV000331478 uncertain significance not provided 2015-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000824719 SCV000568148 benign not provided 2020-07-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24046065)
Ambry Genetics RCV002313246 SCV000848034 benign Inborn genetic diseases 2016-07-18 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.
Revvity Omics, Revvity RCV000824719 SCV003830304 uncertain significance not provided 2021-02-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000824719 SCV004137976 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing CACNA1A: BS1
GeneDx RCV000485876 SCV000714106 likely benign not specified 2017-03-31 flagged submission 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.

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