ClinVar Miner

Submissions for variant NM_018263.6(ASXL2):c.2190A>C (p.Glu730Asp)

dbSNP: rs1287433846
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001911539 SCV002175410 uncertain significance not provided 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 730 of the ASXL2 protein (p.Glu730Asp). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1400881). This variant has not been reported in the literature in individuals affected with ASXL2-related conditions. This variant is not present in population databases (gnomAD no frequency).
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252722 SCV002523731 likely benign See cases 2020-07-01 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP1, BP4
GeneDx RCV001911539 SCV005371777 uncertain significance not provided 2024-01-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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