ClinVar Miner

Submissions for variant NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg)

gnomAD frequency: 0.00009  dbSNP: rs773391545
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516317 SCV000612631 uncertain significance not specified 2017-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000685212 SCV000812685 uncertain significance Idiopathic generalized epilepsy 2023-07-17 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 31 of the CACNB4 protein (p.Ser31Arg). This variant is present in population databases (rs773391545, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CACNB4-related conditions. ClinVar contains an entry for this variant (Variation ID: 446974). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive.
Fulgent Genetics, Fulgent Genetics RCV000764271 SCV000895287 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 9; Episodic ataxia type 5 2018-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535669 SCV004734730 uncertain significance CACNB4-related disorder 2024-02-25 no assertion criteria provided clinical testing The CACNB4 c.91A>C variant is predicted to result in the amino acid substitution p.Ser31Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.019% 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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