Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004420281 | SCV004905889 | uncertain significance | Inborn genetic diseases | 2023-10-20 | criteria provided, single submitter | clinical testing | The c.4072A>G (p.I1358V) alteration is located in exon 30 (coding exon 30) of the ARFGEF2 gene. This alteration results from a A to G substitution at nucleotide position 4072, causing the isoleucine (I) at amino acid position 1358 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |