ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.508T>A (p.Phe170Ile)

gnomAD frequency: 0.00001  dbSNP: rs371651284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001348052 SCV001542339 uncertain significance Brugada syndrome 2022-04-15 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 170 of the SCN5A protein (p.Phe170Ile). This variant is present in population databases (rs371651284, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1043880). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
AiLife Diagnostics, AiLife Diagnostics RCV002224074 SCV002502535 uncertain significance not provided 2021-10-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476600 SCV002785249 uncertain significance Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 2021-08-11 criteria provided, single submitter clinical testing

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