ClinVar Miner

Submissions for variant NM_174934.4(SCN4B):c.112G>A (p.Ala38Thr)

dbSNP: rs777894412
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001060297 SCV001224977 uncertain significance Long QT syndrome 10 2023-08-01 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 855114). This variant has not been reported in the literature in individuals affected with SCN4B-related conditions. This variant is present in population databases (rs777894412, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 38 of the SCN4B protein (p.Ala38Thr).

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