ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2797G>A (p.Glu933Lys) (rs1259402740)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641162 SCV000762789 uncertain significance Saldino-Mainzer syndrome 2019-08-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 933 of the IFT140 protein (p.Glu933Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IFT140-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Possibly 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.
Blueprint Genetics RCV001073520 SCV001239067 uncertain significance Retinal dystrophy 2019-04-26 criteria provided, single submitter clinical testing

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