ClinVar Miner

Submissions for variant NM_018947.6(CYCS):c.97C>G (p.Leu33Val)

dbSNP: rs2128577598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002222149 SCV002499626 uncertain significance Thrombocytopenia 4 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003774641 SCV004634536 uncertain significance not provided 2023-02-08 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1676752). This missense change has been observed in individual(s) with macrothrombocytopenia (PMID: 34355501). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 33 of the CYCS protein (p.Leu33Val).

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