ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.1773A>G (p.Ala591=)

gnomAD frequency: 0.00003  dbSNP: rs370425217
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704267 SCV000527055 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000426040 SCV000594094 likely benign not specified 2017-04-24 criteria provided, single submitter clinical testing
Invitae RCV000651643 SCV000773497 likely benign Developmental and epileptic encephalopathy 94 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318459 SCV000851477 likely benign Inborn genetic diseases 2017-01-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003922783 SCV004746202 likely benign CHD2-related condition 2019-05-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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