Submissions for variant NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His)

gnomAD frequency: 0.00329  dbSNP: rs76064926

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001094087	SCV000377251	benign	Retinal cone dystrophy 4	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000903152	SCV001047607	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000404928	SCV001138620	benign	Cone dystrophy 3	2023-12-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000903152	SCV004129697	benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	CACNA2D4: BP4, BS1, BS2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000787804	SCV000926814	likely pathogenic	Progressive cone dystrophy (without rod involvement)	2018-04-01	no assertion criteria provided	research