Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002334646 | SCV002644290 | uncertain significance | Cardiovascular phenotype | 2022-08-26 | criteria provided, single submitter | clinical testing | The c.497-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 3 in the SNTA1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
Fulgent Genetics, |
RCV002496028 | SCV002784098 | uncertain significance | Long QT syndrome 12 | 2021-08-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002538638 | SCV003272411 | uncertain significance | Long QT syndrome | 2022-11-04 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 2 of the SNTA1 gene. It does not directly change the encoded amino acid sequence of the SNTA1 protein. 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 create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1284709). This variant has been observed in individual(s) with SNTA1-related conditions (PMID: 30847666). This variant is present in population databases (rs202178576, gnomAD 0.004%). |
Clinical Genetics, |
RCV001700555 | SCV001917650 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001700555 | SCV001928859 | uncertain significance | not provided | no assertion criteria provided | clinical testing |