ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3368C>T (p.Pro1123Leu)

dbSNP: rs781672845
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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 RCV001870473 SCV002126171 uncertain significance Saldino-Mainzer syndrome 2021-10-10 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1123 of the IFT140 protein (p.Pro1123Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs781672845, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV005006107 SCV005642737 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-04-08 criteria provided, single submitter clinical testing

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