ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5529-1263G>A

dbSNP: rs770936656
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002255194 SCV002526459 uncertain significance not provided 2022-06-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Labcorp Genetics (formerly Invitae), Labcorp RCV003101398 SCV003447663 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-08-22 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1691735). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1846 of the CACNA1A protein (p.Arg1846Gln).
Ambry Genetics RCV003094186 SCV003616637 uncertain significance Inborn genetic diseases 2022-05-16 criteria provided, single submitter clinical testing The c.5537G>A (p.R1846Q) alteration is located in exon 37 (coding exon 37) of the CACNA1A gene. This alteration results from a G to A substitution at nucleotide position 5537, causing the arginine (R) at amino acid position 1846 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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