ClinVar Miner

Submissions for variant NM_018398.3(CACNA2D3):c.2845A>G (p.Ser949Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004369795 SCV004914893 uncertain significance not specified 2023-10-30 criteria provided, single submitter clinical testing The c.2845A>G (p.S949G) alteration is located in exon 34 (coding exon 34) of the CACNA2D3 gene. This alteration results from a A to G substitution at nucleotide position 2845, causing the serine (S) at amino acid position 949 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003926973 SCV004741304 likely benign CACNA2D3-related disorder 2022-12-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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