Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004150928 | SCV003638694 | uncertain significance | Cardiovascular phenotype | 2022-08-02 | criteria provided, single submitter | clinical testing | The c.1105C>G (p.R369G) alteration is located in exon 6 (coding exon 6) of the SNTA1 gene. This alteration results from a C to G substitution at nucleotide position 1105, causing the arginine (R) at amino acid position 369 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |