ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.8626C>T (p.Arg2876Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803617 SCV000943497 uncertain significance not provided 2018-09-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 2819 of the SZT2 protein (p.Arg2819Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs747143141, ExAC 0.01%). This variant has not been reported in the literature in individuals with SZT2-related disease. 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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