Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002960793 | SCV003683330 | uncertain significance | Inborn genetic diseases | 2022-05-11 | criteria provided, single submitter | clinical testing | The c.4778T>G (p.I1593S) alteration is located in exon 36 (coding exon 36) of the ARFGEF2 gene. This alteration results from a T to G substitution at nucleotide position 4778, causing the isoleucine (I) at amino acid position 1593 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |