ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5801C>G (p.Ser1934Cys)

gnomAD frequency: 0.00001  dbSNP: rs375365071
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215194 SCV001386924 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-02-08 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) 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 CACNA1A protein function. ClinVar contains an entry for this variant (Variation ID: 944728). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1935 of the CACNA1A protein (p.Ser1935Cys). This variant is present in population databases (rs375365071, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions.

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