Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002939196 | SCV003657657 | uncertain significance | Inborn genetic diseases | 2022-11-08 | criteria provided, single submitter | clinical testing | The c.1651A>G (p.M551V) alteration is located in exon 12 (coding exon 12) of the ARFGEF2 gene. This alteration results from a A to G substitution at nucleotide position 1651, causing the methionine (M) at amino acid position 551 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |