ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.3200G>A (p.Arg1067His)

gnomAD frequency: 0.00002  dbSNP: rs369751310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001170030 SCV001251753 benign not specified 2020-05-03 criteria provided, single submitter clinical testing
Invitae RCV003769831 SCV004625540 uncertain significance not provided 2023-04-12 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 1067 of the CACNA1G protein (p.Arg1067His). 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. 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. 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 CACNA1G protein function. ClinVar contains an entry for this variant (Variation ID: 915415). This variant has not been reported in the literature in individuals affected with CACNA1G-related conditions.

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