Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004400290 | SCV004886231 | uncertain significance | Inborn genetic diseases | 2023-10-17 | criteria provided, single submitter | clinical testing | The c.4941C>G (p.D1647E) alteration is located in exon 46 (coding exon 46) of the IFT172 gene. This alteration results from a C to G substitution at nucleotide position 4941, causing the aspartic acid (D) at amino acid position 1647 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |