ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1563_1564delinsAA (p.Pro522Thr)

dbSNP: rs2061966279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001842783 SCV001344171 uncertain significance Cardiac arrhythmia 2019-11-27 criteria provided, single submitter clinical testing This missense variant replaces proline with threonine at codon 522 of the SCN5A protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not 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). The 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003541472 SCV002178273 uncertain significance not provided 2021-07-28 criteria provided, single submitter clinical testing This variant, c.1563_1564delinsAA, is a complex sequence change that results in the deletion of 1 and insertion of 1 amino acid(s) in the SCN5A protein (p.Pro522Thr). The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. 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: 920645). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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