ClinVar Miner

Submissions for variant NM_000726.5(CACNB4):c.331G>A (p.Val111Met)

gnomAD frequency: 0.00001  dbSNP: rs764764389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288060 SCV001474892 uncertain significance not provided 2020-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035555 SCV003900547 uncertain significance not specified 2023-02-23 criteria provided, single submitter clinical testing The c.331G>A (p.V111M) alteration is located in exon 4 (coding exon 4) of the CACNB4 gene. This alteration results from a G to A substitution at nucleotide position 331, causing the valine (V) at amino acid position 111 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Solve-RD Consortium RCV004770002 SCV005091442 likely pathogenic Epilepsy, idiopathic generalized, susceptibility to, 9 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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