Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001341714 | SCV001535599 | uncertain significance | Long QT syndrome | 2020-07-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala341Glufs*103) in the SNTA1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with SNTA1-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SNTA1 cause disease. 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. |
Ai |
RCV002224068 | SCV002503105 | uncertain significance | not provided | 2021-12-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002504535 | SCV002816385 | uncertain significance | Long QT syndrome 12 | 2021-10-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004035971 | SCV005020476 | uncertain significance | Cardiovascular phenotype | 2023-11-17 | criteria provided, single submitter | clinical testing | The c.1003_1021dup19 variant, located in coding exon 5 of the SNTA1 gene, results from a duplication of AGCCGGCCAGCCCGTACTG at nucleotide position 1003, causing a translational frameshift with a predicted alternate stop codon (p.A341Efs*103). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |