Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002874445 | SCV003640982 | uncertain significance | Inborn genetic diseases | 2022-08-03 | criteria provided, single submitter | clinical testing | The c.4547A>G (p.D1516G) alteration is located in exon 34 (coding exon 34) of the ARFGEF2 gene. This alteration results from a A to G substitution at nucleotide position 4547, causing the aspartic acid (D) at amino acid position 1516 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |