Submissions for variant NM_000335.5(SCN5A):c.2263-5_2263-3del

dbSNP: rs2061688760

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001842626	SCV001339488	uncertain significance	Cardiac arrhythmia	2019-07-09	criteria provided, single submitter	clinical testing	This variant is located in the splice acceptor region in intron 14 of the SCN5A gene. Computational splicing tools and conservation analyses are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae	RCV003541469	SCV002163690	uncertain significance	not provided	2021-11-27	criteria provided, single submitter	clinical testing	This sequence change falls in intron 14 of the SCN5A gene. It does not directly change the encoded amino acid sequence of the SCN5A protein. This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 918275). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions.