ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3881T>C (p.Ile1294Thr)

gnomAD frequency: 0.00004  dbSNP: rs539917190
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001041314 SCV001204920 uncertain significance Saldino-Mainzer syndrome 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1294 of the IFT140 protein (p.Ile1294Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 839535). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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, Fulgent Genetics RCV002481885 SCV002789011 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-04-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031245 SCV004886191 uncertain significance Inborn genetic diseases 2024-03-11 criteria provided, single submitter clinical testing The c.3881T>C (p.I1294T) alteration is located in exon 29 (coding exon 27) of the IFT140 gene. This alteration results from a T to C substitution at nucleotide position 3881, causing the isoleucine (I) at amino acid position 1294 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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