ClinVar Miner

Submissions for variant NM_001040151.2(SCN3B):c.13A>G (p.Asn5Asp)

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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 RCV003603695 SCV004532909 uncertain significance Brugada syndrome 7 2023-01-09 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 tolerated. This variant has not been reported in the literature in individuals affected with SCN3B-related conditions. This variant is present in population databases (rs758655363, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 5 of the SCN3B protein (p.Asn5Asp).
Ambry Genetics RCV004374202 SCV004944248 uncertain significance Cardiovascular phenotype 2024-01-03 criteria provided, single submitter clinical testing The c.13A>G (p.N5D) alteration is located in exon 1 (coding exon 1) of the SCN3B gene. This alteration results from a A to G substitution at nucleotide position 13, causing the asparagine (N) at amino acid position 5 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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