ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.1618G>A (p.Val540Ile)

dbSNP: rs1368222485
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712667 SCV000725453 likely benign not provided 2020-07-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30868116)
Invitae RCV001071515 SCV001236823 uncertain significance Developmental and epileptic encephalopathy 94 2023-03-23 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with drug-resistant epilepsy (PMID: 30868116). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 540 of the CHD2 protein (p.Val540Ile). ClinVar contains an entry for this variant (Variation ID: 513906). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CHD2 protein function.

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