ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3451G>C (p.Gly1151Arg)

dbSNP: rs374932564
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003236220 SCV003933637 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004285659 SCV004916240 uncertain significance Inborn genetic diseases 2023-12-20 criteria provided, single submitter clinical testing The c.3454G>C (p.G1152R) alteration is located in exon 20 (coding exon 20) of the CACNA1A gene. This alteration results from a G to C substitution at nucleotide position 3454, causing the glycine (G) at amino acid position 1152 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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