ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.3265G>A (p.Ala1089Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002292957 SCV002585658 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing CACNA1G: BP4, BS1
Invitae RCV002292957 SCV003262099 likely benign not provided 2023-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534043 SCV004116029 uncertain significance CACNA1G-related disorder 2023-04-13 criteria provided, single submitter clinical testing The CACNA1G c.3265G>A variant is predicted to result in the amino acid substitution p.Ala1089Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.078% of alleles in individuals of European (Non-Finnish) descent in gnomAD ( Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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