ClinVar Miner

Submissions for variant NM_015557.3(CHD5):c.940G>T (p.Glu314Ter)

dbSNP: rs754586094
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics, University Hospital Essen RCV001376657 SCV001478002 likely pathogenic Seizure 2021-01-18 criteria provided, single submitter research
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV002246280 SCV005397753 likely pathogenic Parenti-mignot neurodevelopmental syndrome 2024-05-17 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (G>T) at position 940 of the coding sequence of the CHD5 gene that replaces Glu314 with an early termination codon. As it occurs in exon 7 of 42, this variant is predicted to generate a non-functional allele through either the expression of a truncated protein or a loss of CHD5-encoded chromodomain helicase DNA binding protein 5 expression due to nonsense-mediated decay. This is a previously reported variant (ClinVar 995777) that has been observed in a family with intellectual disability and/or craniosynostosis (PMID: 33944996). This variant is present in 2 of 1608952 alleles (0.00012%) in the gnomAD v4.1.0 population dataset. Haploinsufficiency in CHD5 is likely to be disease-causing (PMID: 33944996). Based upon the evidence, we consider this variant to be likely pathogenic. ACMG Criteria: PM2, PVS1
GeneDx RCV004822345 SCV005443007 pathogenic not provided 2024-07-01 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33944996)
OMIM RCV002246280 SCV002520565 pathogenic Parenti-mignot neurodevelopmental syndrome 2022-05-07 no assertion criteria provided literature only

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