ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)

dbSNP: rs2065880189
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001751538 SCV001987732 uncertain significance not provided 2019-02-08 criteria provided, single submitter clinical testing Observed in a patient with an incomplete form of congenital stationary blindness, and in the hemizygous state in a male with early onset high myopia (Zeitz et al., 2015; Sun et al., 2015); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 26747767, 25307992, 33668843)
Invitae RCV001751538 SCV002296905 likely pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 82 of the CACNA1F protein (p.Arg82Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with CACNA1F-related conditions (PMID: 25307992, 26747767, 28002560, 30825406). ClinVar contains an entry for this variant (Variation ID: 988786). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
MGZ Medical Genetics Center RCV002290679 SCV002579710 uncertain significance Ocular albinism, type II 2021-12-21 criteria provided, single submitter clinical testing
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001270455 SCV001450743 likely pathogenic Congenital stationary night blindness 2A no assertion criteria provided research

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