ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[2] (p.Glu812_Glu814del)

dbSNP: rs59355923
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728080 SCV000855610 likely benign not specified 2017-07-25 criteria provided, single submitter clinical testing
Invitae RCV001055564 SCV001219962 uncertain significance not provided 2024-01-22 criteria provided, single submitter clinical testing This variant, c.2466_2474del, results in the deletion of 3 amino acid(s) of the CACNA1F protein (p.Glu823_Glu825del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CACNA1F-related conditions. ClinVar contains an entry for this variant (Variation ID: 593126). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003953293 SCV004772457 likely benign CACNA1F-related disorder 2023-06-02 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).

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.