ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1207G>A (p.Val403Ile)

gnomAD frequency: 0.00001  dbSNP: rs752546853
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000697496 SCV000826111 uncertain significance Brugada syndrome 4 2018-01-16 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CACNB2-related disease. This variant is present in population databases (rs752546853, ExAC 0.002%). This sequence change replaces valine with isoleucine at codon 349 of the CACNB2 protein (p.Val349Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine.
Fulgent Genetics, Fulgent Genetics RCV000697496 SCV002813435 uncertain significance Brugada syndrome 4 2021-10-18 criteria provided, single submitter clinical testing

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