Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004420280 | SCV004905888 | uncertain significance | Inborn genetic diseases | 2023-10-02 | criteria provided, single submitter | clinical testing | The c.3832G>T (p.A1278S) alteration is located in exon 28 (coding exon 28) of the ARFGEF2 gene. This alteration results from a G to T substitution at nucleotide position 3832, causing the alanine (A) at amino acid position 1278 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |