ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter)

dbSNP: rs864309548
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV000202641 SCV001160780 pathogenic Developmental and epileptic encephalopathy 94 2019-12-11 criteria provided, single submitter research ACMG evidence PVS1,PS2,PM2, PP2, PP5
Labcorp Genetics (formerly Invitae), Labcorp RCV000202641 SCV001386658 pathogenic Developmental and epileptic encephalopathy 94 2023-02-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 218399). This sequence change creates a premature translational stop signal (p.Gln1641*) in the CHD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autism spectrum disorder and/or epileptic encephalopathy (PMID: 25418537, 28191889, 31981491, 32238909).
DASA RCV000202641 SCV002061218 pathogenic Developmental and epileptic encephalopathy 94 2022-01-05 criteria provided, single submitter clinical testing The c.4921C>T;p.(Gln1641*) variant creates a premature translational stop signal in the the CHD2 gene. It is expected to result in an absent or disrupted protein product -PVS1.This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 218399; PMID: 25418537; 32238909) - PS4_modetare. This variant is not present in population databases (rs864309548, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. The variant was assumed de novo, but without confirmation of paternity and maternity (PMID: 32238909) - PM6. In summary, the currently available evidence indicates that the variant is pathogenic.
Department of Developmental Neurology, Medical University of Gdańsk RCV000202641 SCV004100849 not provided Developmental and epileptic encephalopathy 94 no assertion provided phenotyping only

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