ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro)

dbSNP: rs2056768058
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatrics, MediClubGeorgia RCV001281101 SCV001451925 likely pathogenic Migraine, familial hemiplegic, 1 criteria provided, single submitter clinical testing This variant is absent in population databases. This variant has not been described in the literature. Parents were also tested and this variant was not detected. 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 expected to disrupt CACNA1A protein function. FHM has been associated with missense alterations in CACNA1A that code for functional regions of the protein.
Labcorp Genetics (formerly Invitae), Labcorp RCV001368887 SCV001565305 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1344 of the CACNA1A protein (p.Ser1344Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 992630). 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 expected to disrupt CACNA1A 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.

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