ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.3421C>T (p.Arg1141Cys)

gnomAD frequency: 0.00005  dbSNP: rs780732725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799334 SCV001431168 uncertain significance Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 2020-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570579 SCV003297633 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1141 of the CACNA1B protein (p.Arg1141Cys). This variant is present in population databases (rs780732725, gnomAD 0.0009%). 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: 977420). 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) performed at Invitae indicates that this missense variant is not expected to disrupt CACNA1B 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.
Ambry Genetics RCV004035345 SCV004915171 uncertain significance not specified 2024-01-24 criteria provided, single submitter clinical testing The c.3421C>T (p.R1141C) alteration is located in exon 22 (coding exon 22) of the CACNA1B gene. This alteration results from a C to T substitution at nucleotide position 3421, causing the arginine (R) at amino acid position 1141 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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