ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4836T>G (p.Cys1612Trp)

dbSNP: rs781413708
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427258 SCV000536458 uncertain significance not provided 2022-09-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000689627 SCV000817287 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-08-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 393096). 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 affected with CACNA1A-related conditions. This variant is present in population databases (rs781413708, gnomAD 0.003%). This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 1613 of the CACNA1A protein (p.Cys1613Trp).
Ambry Genetics RCV002525522 SCV003738666 uncertain significance Inborn genetic diseases 2022-08-02 criteria provided, single submitter clinical testing The c.4839T>G (p.C1613W) alteration is located in exon 30 (coding exon 30) of the CACNA1A gene. This alteration results from a T to G substitution at nucleotide position 4839, causing the cysteine (C) at amino acid position 1613 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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