ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.5504G>A (p.Arg1835Gln)

gnomAD frequency: 0.00004  dbSNP: rs782177944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002033056 SCV002107684 uncertain significance not provided 2021-11-10 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with CACNA1F-related conditions. 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 sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1846 of the CACNA1F protein (p.Arg1846Gln).
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003451975 SCV004183312 benign Aland island eye disease 2023-12-12 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV002033056 SCV005192415 uncertain significance not provided criteria provided, single submitter not provided

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