ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3880C>T (p.Arg1294Cys)

gnomAD frequency: 0.00004  dbSNP: rs369191459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207410 SCV000259121 likely benign Anophthalmia-microphthalmia syndrome 2013-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001853288 SCV002271145 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-07-16 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 221925). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. This variant is present in population databases (rs369191459, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1294 of the IFT172 protein (p.Arg1294Cys).
Dept Of Ophthalmology, Nagoya University RCV003888642 SCV004705239 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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