ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1726C>T (p.Arg576Trp)

gnomAD frequency: 0.00004  dbSNP: rs757678246
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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 RCV002035223 SCV002111423 uncertain significance Saldino-Mainzer syndrome 2022-05-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 576 of the IFT140 protein (p.Arg576Trp). This variant is present in population databases (rs757678246, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002489929 SCV002791203 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-03-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003407838 SCV004113817 uncertain significance IFT140-related disorder 2024-07-29 no assertion criteria provided clinical testing The IFT140 c.1726C>T variant is predicted to result in the amino acid substitution p.Arg576Trp. This variant has been reported in two patients with polycystic kidneys whose parents did not have evident polycystic kidneys (Fujimaru et al. 2024. doi: https://doi.org/10.1016/j.ekir.2024.06.021). This variant is reported in 0.0081% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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