Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004100312 | SCV003571830 | uncertain significance | Cardiovascular phenotype | 2021-08-16 | criteria provided, single submitter | clinical testing | The c.1048C>T (p.H350Y) alteration is located in exon 6 (coding exon 6) of the SNTA1 gene. This alteration results from a C to T substitution at nucleotide position 1048, causing the histidine (H) at amino acid position 350 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |