ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3568G>T (p.Val1190Leu)

gnomAD frequency: 0.00001  dbSNP: rs1048241141
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037547 SCV001200966 uncertain significance Long QT syndrome 2023-03-31 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.004%). 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 CACNA1C protein function. ClinVar contains an entry for this variant (Variation ID: 836422). This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions. This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1190 of the CACNA1C protein (p.Val1190Leu).
Neurogenetics Research Program, University of Adelaide RCV001796345 SCV001737575 likely pathogenic Cerebral palsy 2021-06-10 criteria provided, single submitter research

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