Submissions for variant NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)

dbSNP: rs1557110499

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000521278	SCV000617655	pathogenic	not provided	2022-09-15	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23714322, 11281458, 32581362, 30825406)
Invitae	RCV000521278	SCV001556677	pathogenic	not provided	2022-12-22	criteria provided, single submitter	clinical testing	This variant, c.952_954del, results in the deletion of 1 amino acid(s) of the CACNA1F protein (p.Phe318del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 438129). This variant has been observed in individuals with congenital stationary night blindness (PMID: 11281458, 23714322, 30825406; Invitae). It has also been observed to segregate with disease in related individuals.
CeGaT Center for Human Genetics Tuebingen	RCV000521278	SCV002498133	likely pathogenic	not provided	2022-03-01	criteria provided, single submitter	clinical testing	CACNA1F: PM2, PM3, PM4
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000505132	SCV000599049	likely pathogenic	Congenital stationary night blindness	2015-01-01	no assertion criteria provided	research
Sharon lab, Hadassah-Hebrew University Medical Center	RCV002267736	SCV001160955	pathogenic	Cone-rod dystrophy	2019-06-23	no assertion criteria provided	research