ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly)

gnomAD frequency: 0.00006  dbSNP: rs771632573
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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 RCV001988762 SCV002285340 uncertain significance Saldino-Mainzer syndrome 2021-11-13 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. This variant has not been reported in the literature in individuals affected with IFT140-related conditions. This variant is present in population databases (rs771632573, gnomAD 0.01%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1460 of the IFT140 protein (p.Asp1460Gly).
Fulgent Genetics, Fulgent Genetics RCV002492277 SCV002778757 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-10-18 criteria provided, single submitter clinical testing

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