Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002376233 | SCV002683993 | uncertain significance | Cardiovascular phenotype | 2023-06-08 | criteria provided, single submitter | clinical testing | The c.896_899delGGCT variant, located in coding exon 4 of the SNTA1 gene, results from a deletion of 4 nucleotides at nucleotide positions 896 to 899, causing a translational frameshift with a predicted alternate stop codon (p.W299*). 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. |