Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003541128 | SCV001222535 | uncertain significance | not provided | 2023-12-14 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1106 of the SCN5A protein (p.Ala1106Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with sudden death (PMID: 24631775). ClinVar contains an entry for this variant (Variation ID: 853230). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
| All of Us Research Program, |
RCV004000094 | SCV004837537 | uncertain significance | Cardiac arrhythmia | 2023-10-06 | criteria provided, single submitter | clinical testing | This missense variant replaces alanine with serine at codon 1106 of the SCN5A protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with sudden infant death syndrome (PMID: 24631775, 32449611). 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. |