ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.403G>A (p.Val135Ile)

gnomAD frequency: 0.00001  dbSNP: rs201476743
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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 RCV001300883 SCV001490034 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2020-06-01 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 135 of the IFT172 protein (p.Val135Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with IFT172-related conditions. This variant is not present in population databases (ExAC no frequency).
Fulgent Genetics, Fulgent Genetics RCV002493587 SCV002788212 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-05-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738234 SCV005365009 uncertain significance IFT172-related disorder 2024-07-02 no assertion criteria provided clinical testing The IFT172 c.403G>A variant is predicted to result in the amino acid substitution p.Val135Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% 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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