ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.4166G>A (p.Arg1389His)

gnomAD frequency: 0.00043  dbSNP: rs184841813
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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 RCV002517629 SCV003270327 uncertain significance not provided 2022-10-18 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 1389 of the CACNA1B protein (p.Arg1389His). This variant is present in population databases (rs184841813, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with CACNA1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 189196). 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 disruptive. 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 RCV002517629 SCV004010909 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing CACNA1B: PP3
OMIM RCV000169631 SCV000221160 uncertain significance Dystonia 23 2015-02-15 no assertion criteria provided literature only

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