Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004464427 | SCV004954455 | uncertain significance | Cardiovascular phenotype | 2023-12-18 | criteria provided, single submitter | clinical testing | The c.899T>G (p.L300R) alteration is located in exon 4 (coding exon 4) of the SNTA1 gene. This alteration results from a T to G substitution at nucleotide position 899, causing the leucine (L) at amino acid position 300 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |