Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703012 | SCV000831891 | uncertain significance | Long QT syndrome | 2018-03-23 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with tyrosine at codon 354 of the SNTA1 protein (p.Ser354Tyr). The serine residue is moderately conserved and there is a large physicochemical difference between serine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SNTA1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
Ambry Genetics | RCV003165887 | SCV003858614 | uncertain significance | Cardiovascular phenotype | 2022-11-07 | criteria provided, single submitter | clinical testing | The p.S354Y variant (also known as c.1061C>A), located in coding exon 6 of the SNTA1 gene, results from a C to A substitution at nucleotide position 1061. The serine at codon 354 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |