Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001228072 | SCV001400456 | uncertain significance | Saldino-Mainzer syndrome | 2021-04-08 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with IFT140-related conditions. This variant is present in population databases (rs141818893, ExAC 0.01%). This sequence change replaces arginine with tryptophan at codon 1035 of the IFT140 protein (p.Arg1035Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. |
Fulgent Genetics, |
RCV002484242 | SCV002791839 | uncertain significance | Saldino-Mainzer syndrome; Retinitis pigmentosa 80 | 2021-09-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003246779 | SCV003942015 | uncertain significance | Inborn genetic diseases | 2023-04-13 | criteria provided, single submitter | clinical testing | The c.3103C>T (p.R1035W) alteration is located in exon 24 (coding exon 22) of the IFT140 gene. This alteration results from a C to T substitution at nucleotide position 3103, causing the arginine (R) at amino acid position 1035 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |