ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)

dbSNP: rs2056767062
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001296448 SCV001485412 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2020-10-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 expected to disrupt CACNA1A protein function. This variant has not been reported in the literature in individuals with CACNA1A-related conditions. This sequence change replaces threonine with isoleucine at codon 1356 of the CACNA1A protein (p.Thr1356Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine.
Wendy Chung Laboratory, Columbia University Medical Center RCV002227269 SCV002506527 pathogenic Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52 2022-03-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145516 SCV003830285 uncertain significance not provided 2022-02-12 criteria provided, single submitter clinical testing
Molecular Genetics Lab, CHRU Brest RCV003883173 SCV004697605 pathogenic Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 criteria provided, single submitter clinical testing

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