ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4009CTC[1] (p.Leu1338del)

dbSNP: rs1559732656
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003540940 SCV000942558 uncertain significance not provided 2022-12-09 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: 648070). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant, c.4015_4017del, results in the deletion of 1 amino acid(s) of the SCN5A protein (p.Leu1339del), but otherwise preserves the integrity of the reading frame.
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001258368 SCV001435339 likely pathogenic Brugada syndrome 1 2020-09-05 criteria provided, single submitter clinical testing

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