ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.2777G>A (p.Arg926His)

gnomAD frequency: 0.00005  dbSNP: rs782092924
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039447 SCV001202977 uncertain significance not provided 2023-10-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 937 of the CACNA1F protein (p.Arg937His). This variant is present in population databases (rs782092924, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CACNA1F-related conditions. ClinVar contains an entry for this variant (Variation ID: 837992). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CACNA1F protein function. 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.
CeGaT Center for Human Genetics Tuebingen RCV001039447 SCV004166310 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CACNA1F: BS2

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