ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2053C>T (p.Arg685Cys)

gnomAD frequency: 0.00001  dbSNP: rs778368172
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240847 SCV001413823 uncertain significance Saldino-Mainzer syndrome 2019-10-29 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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: "Tolerated"; PolyPhen-2: "Benign"; 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 (rs778368172, ExAC 0.002%). This sequence change replaces arginine with cysteine at codon 685 of the IFT140 protein (p.Arg685Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine.
Fulgent Genetics, Fulgent Genetics RCV002491800 SCV002778217 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-02-11 criteria provided, single submitter clinical testing

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