ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.623A>T (p.Lys208Ile) (rs780958012)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000709910 SCV000840251 not provided SCN1B-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000553474 SCV000647847 uncertain significance Brugada syndrome 5 2018-08-16 criteria provided, single submitter clinical testing This sequence change replaces lysine with isoleucine at codon 208 of the SCN1B protein (p.Lys208Ile). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and isoleucine. The SCN1B gene has multiple clinically relevant isoforms. The p.Lys208Ile variant occurs in alternate transcript NM_001037.4, which corresponds to position c.*5569A>T in NM_199037.3, the primary transcript listed in the Methods. This variant is present in population databases (rs780958012, ExAC 0.009%). Family studies have indicated that an individual with seizures and intellectual disability inherited this variant from an unaffected parent, which suggests that this variant is not likely a primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 470174). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably damaging"; Align-GVGD: "Class C0"). 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.

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