Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004100946 | SCV003574255 | uncertain significance | Cardiovascular phenotype | 2021-07-20 | criteria provided, single submitter | clinical testing | The c.656T>C (p.M219T) alteration is located in exon 3 (coding exon 3) of the SNTA1 gene. This alteration results from a T to C substitution at nucleotide position 656, causing the methionine (M) at amino acid position 219 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |