ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2218C>T (p.Arg740Cys)

gnomAD frequency: 0.00001  dbSNP: rs187728607
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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 RCV001246027 SCV001419356 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-09-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 740 of the IFT172 protein (p.Arg740Cys). This variant is present in population databases (rs187728607, gnomAD 0.05%). This missense change has been observed in individual(s) with ectopic kidney (PMID: 36307859). ClinVar contains an entry for this variant (Variation ID: 970452). Invitae Evidence 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 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 IFT172 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 RCV002484374 SCV002783599 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-04-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548099 SCV004738616 uncertain significance IFT172-related disorder 2024-09-24 no assertion criteria provided clinical testing The IFT172 c.2218C>T variant is predicted to result in the amino acid substitution p.Arg740Cys. This variant was reported in a fetus with ectopic kidney (Table S2, Fu et al. 2022. PubMed ID: 36307859). This variant is reported in 0.055% of alleles in individuals of East Asian 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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