Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004459589 | SCV004953273 | uncertain significance | Inborn genetic diseases | 2023-12-27 | criteria provided, single submitter | clinical testing | The c.1014T>G (p.I338M) alteration is located in exon 5 (coding exon 4) of the SLX4 gene. This alteration results from a T to G substitution at nucleotide position 1014, causing the isoleucine (I) at amino acid position 338 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |