ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2420G>A (p.Arg807His)

dbSNP: rs1569356550
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680262 SCV000747079 likely pathogenic Congenital muscular hypertrophy-cerebral syndrome 2018-03-08 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268607 SCV001447650 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001268607 SCV003845500 pathogenic not provided 2023-03-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); Alters the last nucleotide of the exon and is predicted to destroy the splice donor site and result in aberrant splicing, although in the absence of functional evidence, the actual effect of this sequence change is unknown; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 23955599, 28924389, 30158690, 31974170)
PreventionGenetics, part of Exact Sciences RCV003892405 SCV004709567 likely pathogenic SMC1A-related disorder 2023-11-10 no assertion criteria provided clinical testing The SMC1A c.2420G>A variant is predicted to result in the amino acid substitution p.Arg807His. This variant was reported de novo in an individual with cohesinopathy (Table 1, Yuan et al 2018. PubMed ID: 30158690). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.
Department of Human Genetics, Hannover Medical School RCV004576960 SCV005060859 uncertain significance Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2024-06-13 flagged submission clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.