Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002778846 | SCV003592895 | uncertain significance | Inborn genetic diseases | 2021-12-03 | criteria provided, single submitter | clinical testing | The c.4058C>T (p.T1353I) alteration is located in exon 30 (coding exon 30) of the ARFGEF2 gene. This alteration results from a C to T substitution at nucleotide position 4058, causing the threonine (T) at amino acid position 1353 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |