ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile)

dbSNP: rs1085307557
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489364 SCV000576718 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing The M1961I variant in the CACNA1A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The M1961I variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M1961I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret M1961I as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002481551 SCV002790269 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2021-12-22 criteria provided, single submitter clinical testing

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