ClinVar Miner

Submissions for variant NM_001040151.2(SCN3B):c.409ACG[1] (p.Thr138del)

dbSNP: rs72552144
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267470 SCV001445651 uncertain significance Inborn genetic diseases 2018-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770397 SCV004682225 uncertain significance Brugada syndrome 7 2023-09-28 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. 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: 986187). This variant has not been reported in the literature in individuals affected with SCN3B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant, c.412_414del, results in the deletion of 1 amino acid(s) of the SCN3B protein (p.Thr138del), but otherwise preserves the integrity of the reading frame.

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