ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)

gnomAD frequency: 0.00006  dbSNP: rs751947412
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658820 SCV000619782 likely benign not provided 2021-03-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously reported as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29482223)
CeGaT Center for Human Genetics Tuebingen RCV000658820 SCV000780616 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000658820 SCV000854863 uncertain significance not provided 2017-08-11 criteria provided, single submitter clinical testing
Invitae RCV001069420 SCV001234584 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333785 SCV001526465 uncertain significance Spinocerebellar ataxia type 6 2018-10-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in one patient with sensory ataxia [PMID 29482223] and also present in the general population at a low allele frequency (gnomAD database)
Revvity Omics, Revvity RCV000658820 SCV003830263 uncertain significance not provided 2021-01-20 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.