ClinVar Miner

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

dbSNP: rs1557110499
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Total submissions: 5
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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

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