ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.710T>C (p.Phe237Ser)

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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 RCV002608514 SCV002952857 uncertain significance Saldino-Mainzer syndrome 2022-05-18 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 237 of the IFT140 protein (p.Phe237Ser). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with IFT140-related conditions. This variant is not present in population databases (gnomAD no frequency).
Fulgent Genetics, Fulgent Genetics RCV005019278 SCV005645289 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-04-29 criteria provided, single submitter clinical testing

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