Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002822280 | SCV003608067 | uncertain significance | Inborn genetic diseases | 2022-03-17 | criteria provided, single submitter | clinical testing | The c.5159A>C (p.K1720T) alteration is located in exon 47 (coding exon 47) of the IFT172 gene. This alteration results from a A to C substitution at nucleotide position 5159, causing the lysine (K) at amino acid position 1720 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |