ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2447G>A (p.Arg816Gln)

gnomAD frequency: 0.00001  dbSNP: rs536061072
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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 RCV001316226 SCV001506833 uncertain significance Saldino-Mainzer syndrome 2021-07-21 criteria provided, single submitter clinical testing 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with IFT140-related conditions. This variant is present in population databases (rs536061072, ExAC 0.03%). This sequence change replaces arginine with glutamine at codon 816 of the IFT140 protein (p.Arg816Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine.
Fulgent Genetics, Fulgent Genetics RCV002476471 SCV002777807 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-03-21 criteria provided, single submitter clinical testing

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