Submissions for variant NM_000718.4(CACNA1B):c.5705C>T (p.Pro1902Leu)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002751342	SCV003027994	uncertain significance	not provided	2022-07-06	criteria provided, single submitter	clinical testing	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) performed at Invitae indicates that this missense variant is not expected to disrupt CACNA1B protein function. This variant has not been reported in the literature in individuals affected with CACNA1B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1902 of the CACNA1B protein (p.Pro1902Leu).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003992680	SCV004809940	uncertain significance	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	2024-04-04	criteria provided, single submitter	clinical testing