ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268630 SCV001447699 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV001380589 SCV001578702 pathogenic Saldino-Mainzer syndrome 2020-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 871 of the IFT140 protein (p.Arg871Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs767213195, ExAC 0.004%). This variant has been observed in individual(s) with clinical features of retinitis pigmentosa (PMID: 26216056, 28559085, Invitae). It has also been observed to segregate with disease in related individuals. 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: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.

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