Submissions for variant NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[4] (p.Glu812_Glu814dup)

dbSNP: rs59355923

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000368808	SCV000343143	likely benign	not specified	2016-08-11	criteria provided, single submitter	clinical testing
Invitae	RCV001059216	SCV001223833	uncertain significance	not provided	2023-12-19	criteria provided, single submitter	clinical testing	This variant, c.2466_2474dup, results in the insertion of 3 amino acid(s) of the CACNA1F protein (p.Glu823_Glu825dup), 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: 288897). 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.
CeGaT Center for Human Genetics Tuebingen	RCV001059216	SCV004166311	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	CACNA1F: BS2
PreventionGenetics, part of Exact Sciences	RCV003949925	SCV004760676	likely benign	CACNA1F-related condition	2019-12-10	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).