Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003352104 | SCV004077694 | uncertain significance | Inborn genetic diseases | 2023-06-28 | criteria provided, single submitter | clinical testing | The c.1024G>T (p.D342Y) alteration is located in exon 8 (coding exon 8) of the ARFGEF2 gene. This alteration results from a G to T substitution at nucleotide position 1024, causing the aspartic acid (D) at amino acid position 342 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |