ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3226A>G (p.Arg1076Gly)

gnomAD frequency: 0.00001  dbSNP: rs770486522
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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 RCV001324000 SCV001514939 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 1076 of the IFT172 protein (p.Arg1076Gly). This variant is present in population databases (rs770486522, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. ClinVar contains an entry for this variant (Variation ID: 1023885). 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 RCV005014422 SCV005649061 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-04-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738249 SCV005345554 uncertain significance IFT172-related disorder 2024-08-05 no assertion criteria provided clinical testing The IFT172 c.3226A>G variant is predicted to result in the amino acid substitution p.Arg1076Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (non-Finnish) 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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