Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004400291 | SCV004886232 | uncertain significance | Inborn genetic diseases | 2023-12-27 | criteria provided, single submitter | clinical testing | The c.4970G>A (p.R1657Q) alteration is located in exon 46 (coding exon 46) of the IFT172 gene. This alteration results from a G to A substitution at nucleotide position 4970, causing the arginine (R) at amino acid position 1657 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |