ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.2787+1G>T

dbSNP: rs1060501130
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003654365 SCV000545024 likely pathogenic not provided 2024-12-11 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 16 of the SCN5A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SCN5A are known to be pathogenic (PMID: 20129283, 22789973). This variant is not present in population databases (gnomAD no frequency). 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: 406420). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Genesis Genoma Lab, Genesis Genoma Lab RCV002225106 SCV002503896 likely pathogenic Brugada syndrome 1 2022-04-26 criteria provided, single submitter clinical testing The c.2787+1G>T variant affects the donor splice site in intron 16 of the SCN5A gene and it is expected to disrupt mRNA splicing. It was identified in a patient with Brugada syndrome.

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