ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln)

gnomAD frequency: 0.00001  dbSNP: rs756786140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001893258 SCV002163820 uncertain significance not provided 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 59 of the IFT43 protein (p.Arg59Gln). This variant is present in population databases (rs756786140, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with IFT43-related conditions. ClinVar contains an entry for this variant (Variation ID: 1391766). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002490143 SCV002790904 uncertain significance Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2024-03-21 criteria provided, single submitter clinical testing

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