ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.3449G>A (p.Arg1150Gln)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003081941 SCV003476564 likely benign not provided 2022-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003092520 SCV003677703 uncertain significance Inborn genetic diseases 2021-07-08 criteria provided, single submitter clinical testing The c.3449G>A (p.R1150Q) alteration is located in exon 17 (coding exon 17) of the CACNA1G gene. This alteration results from a G to A substitution at nucleotide position 3449, causing the arginine (R) at amino acid position 1150 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003081941 SCV004145655 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005239649 SCV005887984 likely benign not specified 2025-01-07 criteria provided, single submitter clinical testing Variant summary: CACNA1G c.3449G>A (p.Arg1150Gln) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 7.5e-05 in 1605992 control chromosomes (i.e. in 120 carriers) in the gnomAD database (v4.1 dataset). The occurrence in several carriers suggests that this variant is likely not associated with a high penetrance, severe disease phenotype in heterozygous state. To our knowledge, no occurrence of c.3449G>A in individuals affected with Spinocerebellar Ataxia Type 42 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2163819). Based on the evidence outlined above, the variant was classified as likely benign.

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