ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6630C>G (p.His2210Gln)

dbSNP: rs1006425986
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424906 SCV000529946 likely benign not provided 2022-12-02 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV001861596 SCV002287059 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-03-24 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 387809). 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 histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2211 of the CACNA1A protein (p.His2211Gln).

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