ClinVar Miner

Submissions for variant NM_018947.6(CYCS):c.154G>A (p.Ala52Thr)

dbSNP: rs573366932
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998778 SCV001155054 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000998778 SCV003315007 uncertain significance not provided 2023-02-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 52 of the CYCS protein (p.Ala52Thr). This variant is present in population databases (rs573366932, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CYCS-related conditions. ClinVar contains an entry for this variant (Variation ID: 810076). 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: "Benign"; Align-GVGD: "Class C0"). 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.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245830 SCV002515696 uncertain significance Thrombocytopenia 4 no assertion criteria provided research

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