ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2488A>G (p.Asn830Asp)

dbSNP: rs2144957160
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001725876 SCV001962689 uncertain significance Episodic ataxia type 2; Migraine, familial hemiplegic, 1 2021-10-04 criteria provided, single submitter clinical testing The p.(Asn834Asp) variant in CACNA1A is absent from control cohorts (no frequency in gnomAD) and has not been reported in the literature in individuals with CACNA1A-related conditions. Bioinformatic tools do not fully agree on the impact of this variation (SIFT (v6.2.0): deleterious, MutationTaster (v2013): disease causing, PolyPhen-2: probably damaging, Align GVGD (v2007): class C0). At this time, the available information is not sufficient to assess the role of the variant in CACNA1A-related disorders. Therefore, this variant was classfied as variant of uncertain significance.

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