ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6460C>T (p.Arg2154Trp)

gnomAD frequency: 0.00002  dbSNP: rs1374160355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001304925 SCV001494231 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2021-03-17 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CACNA1A-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces arginine with tryptophan at codon 2155 of the CACNA1A protein (p.Arg2155Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan.
CeGaT Center for Human Genetics Tuebingen RCV001815537 SCV002063738 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing CACNA1A: PM2:Supporting, PP3
Ambry Genetics RCV002543117 SCV003658917 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.6463C>T (p.R2155W) alteration is located in exon 45 (coding exon 45) of the CACNA1A gene. This alteration results from a C to T substitution at nucleotide position 6463, causing the arginine (R) at amino acid position 2155 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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