Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001308476 | SCV001497928 | uncertain significance | Saldino-Mainzer syndrome | 2022-10-04 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 113 of the IFT140 protein (p.Pro113Ser). This variant is present in population databases (rs756324852, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 1010784). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IFT140 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Fulgent Genetics, |
RCV002499589 | SCV002812090 | uncertain significance | Saldino-Mainzer syndrome; Retinitis pigmentosa 80 | 2024-05-06 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003166759 | SCV003879009 | uncertain significance | Inborn genetic diseases | 2023-03-02 | criteria provided, single submitter | clinical testing | The c.337C>T (p.P113S) alteration is located in exon 4 (coding exon 2) of the IFT140 gene. This alteration results from a C to T substitution at nucleotide position 337, causing the proline (P) at amino acid position 113 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |