ClinVar Miner

Submissions for variant NM_174934.4(SCN4B):c.235-18A>G

gnomAD frequency: 0.00004  dbSNP: rs758764353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000171556 SCV000223640 likely benign not specified 2015-12-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001852053 SCV002242255 uncertain significance Long QT syndrome 10 2023-12-22 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the SCN4B gene. It does not directly change the encoded amino acid sequence of the SCN4B protein. This variant is present in population databases (rs758764353, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SCN4B-related conditions. ClinVar contains an entry for this variant (Variation ID: 190893). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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