ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2035G>A (p.Gly679Arg)

gnomAD frequency: 0.00003  dbSNP: rs769632242
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001345884 SCV001540031 uncertain significance Saldino-Mainzer syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 679 of the IFT140 protein (p.Gly679Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs769632242, ExAC 0.008%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002476593 SCV002788667 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-07-22 criteria provided, single submitter clinical testing

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