Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002802710 | SCV003593183 | uncertain significance | Inborn genetic diseases | 2021-11-15 | criteria provided, single submitter | clinical testing | The c.5229C>A (p.S1743R) alteration is located in exon 48 (coding exon 48) of the IFT172 gene. This alteration results from a C to A substitution at nucleotide position 5229, causing the serine (S) at amino acid position 1743 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |