Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000171102 | SCV000223667 | uncertain significance | not provided | 2012-05-11 | criteria provided, single submitter | clinical testing | The Thr370Met variant in the SNTA1 gene has not been published previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Thr370Met results in a non-conservative amino acid subsitution of a polar Threonine residue with a non-polar Methionine residue at a position that is conserved across species. In silico analysis predicts this change to be damaging to the structure/function of the protein and disease-causing. A mutation affecting a nearby residue (Thr372Met) has been reported in association with Sudden Infant Death Syndrome (SIDS), further supporting the functional importance of this region of the protein. In summary, the clinical significance of the Thr370Met variant in the SNTA1 gene is currently unknown. The pathogenic role of this variant would be supported if it occurred de novo in an individual, or if it co-segregates with a LQTS phenotype in a family. The variant is found in LQT panel(s). |
| Ambry Genetics | RCV002433741 | SCV002744849 | uncertain significance | Cardiovascular phenotype | 2021-10-13 | criteria provided, single submitter | clinical testing | The p.T370M variant (also known as c.1109C>T), located in coding exon 6 of the SNTA1 gene, results from a C to T substitution at nucleotide position 1109. The threonine at codon 370 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |