Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004827414 | SCV005460842 | uncertain significance | not specified | 2024-11-14 | criteria provided, single submitter | clinical testing | The c.73A>T (p.I25F) alteration is located in exon 1 (coding exon 1) of the OR9A4 gene. This alteration results from a A to T substitution at nucleotide position 73, causing the isoleucine (I) at amino acid position 25 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |