ClinVar Miner

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

gnomAD frequency: 0.00002  dbSNP: rs780958012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553474 SCV000647847 uncertain significance Brugada syndrome 5 2023-06-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs780958012, gnomAD 0.006%). 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. ClinVar contains an entry for this variant (Variation ID: 470174). This missense change has been observed in individual(s) with febrile seizures (PMID: 19522081). This sequence change replaces lysine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 208 of the SCN1B protein (p.Lys208Ile). The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.5, and corresponds to NM_199037.3:c.*5569A>T in the primary transcript.
Ambry Genetics RCV002367897 SCV002658658 uncertain significance Cardiovascular phenotype 2020-08-04 criteria provided, single submitter clinical testing The p.K208I variant (also known as c.623A>T), located in coding exon 5 of the SCN1B gene, results from an A to T substitution at nucleotide position 623. The lysine at codon 208 is replaced by isoleucine, an amino acid with dissimilar properties. This variant has been detected in an individual with febrile convulsions (Orrico A et al. Clin. Genet., 2009 Jun;75:579-81). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
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.

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