ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.7513C>T (p.Arg2505Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713757 SCV000844386 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720516 SCV000851393 uncertain significance Seizures 2016-12-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000713757 SCV000945956 uncertain significance not provided 2018-12-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 2448 of the SZT2 protein (p.Arg2448Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs199830565, ExAC 0.03%). This variant has not been reported in the literature in individuals with SZT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 586771). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. 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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