Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004146312 | SCV003623938 | uncertain significance | Cardiovascular phenotype | 2022-05-27 | criteria provided, single submitter | clinical testing | The c.1193A>T (p.D398V) alteration is located in exon 6 (coding exon 6) of the SNTA1 gene. This alteration results from a A to T substitution at nucleotide position 1193, causing the aspartic acid (D) at amino acid position 398 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |