ClinVar Miner

Submissions for variant NM_174934.4(SCN4B):c.636_637dup (p.Asn213fs)

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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 RCV002608215 SCV002943718 uncertain significance Long QT syndrome 10 2022-06-28 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 variant has not been reported in the literature in individuals affected with SCN4B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change results in a frameshift in the SCN4B gene (p.Asn213Argfs*32). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acid(s) of the SCN4B protein and extend the protein by 15 additional amino acid residues.
Ambry Genetics RCV003308169 SCV004000792 uncertain significance Cardiovascular phenotype 2023-06-12 criteria provided, single submitter clinical testing The c.636_637dupGA variant, located in coding exon 5 of the SCN4B gene, results from a duplication of GA at nucleotide position 636, causing a translational frameshift with a predicted alternate stop codon (p.N213Rfs*32). This alteration is expected to result in protein truncation. However, loss of function of SCN4B has not been established as a mechanism of disease. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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