Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002859317 | SCV003620710 | uncertain significance | Inborn genetic diseases | 2022-05-25 | criteria provided, single submitter | clinical testing | The c.4913C>T (p.P1638L) alteration is located in exon 45 (coding exon 45) of the IFT172 gene. This alteration results from a C to T substitution at nucleotide position 4913, causing the proline (P) at amino acid position 1638 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |