Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001990800 | SCV002264347 | uncertain significance | Saldino-Mainzer syndrome | 2022-09-19 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 748 of the IFT140 protein (p.His748Tyr). This variant is present in population databases (rs760427350, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. ClinVar contains an entry for this variant (Variation ID: 1478864). 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. |
| Ambry Genetics | RCV003339867 | SCV004057855 | uncertain significance | Inborn genetic diseases | 2023-07-17 | criteria provided, single submitter | clinical testing | The c.2242C>T (p.H748Y) alteration is located in exon 19 (coding exon 17) of the IFT140 gene. This alteration results from a C to T substitution at nucleotide position 2242, causing the histidine (H) at amino acid position 748 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005016998 | SCV005642813 | uncertain significance | Saldino-Mainzer syndrome; Retinitis pigmentosa 80 | 2024-06-06 | criteria provided, single submitter | clinical testing |