ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.55G>A (p.Gly19Arg)

gnomAD frequency: 0.00002  dbSNP: rs771386831
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV003480310 SCV004224607 uncertain significance not provided 2022-11-17 criteria provided, single submitter clinical testing PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV003621712 SCV004469449 uncertain significance Brugada syndrome 5 2023-09-14 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This missense change has been observed in individual(s) with epilepsy (PMID: 31069529). This variant is present in population databases (rs771386831, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 19 of the SCN1B protein (p.Gly19Arg).

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