ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.630G>T (p.Glu210Asp) (rs749147803)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488302 SCV000575016 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000651629 SCV000773483 uncertain significance Epileptic encephalopathy, childhood-onset 2017-08-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 210 of the CHD2 protein (p.Glu210Asp). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs749147803, ExAC 0.009%). This variant has not been reported in the literature in individuals with CHD2-related disease. ClinVar contains an entry for this variant (Variation ID: 425076). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV000719679 SCV000850549 likely benign History of neurodevelopmental disorder 2017-03-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification

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