ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001270902 SCV001451683 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2020-06-10 criteria provided, single submitter clinical testing The SMC1A c.756C>G (p.Asp252Glu) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is found at a frequency of 0.000013 in the European (Non-Finnish) population of the Genome Aggregation Database, but this is based on one allele found in a heterozygous state in a female individual, so the variant is presumed to be rare. Missense variants in this gene are a common mechanism of disease and this variant is found in the coiled-coil domain (Mannini et al. 2010). Based on the limited evidence, the p.Asp252Glu variant is classified as a variant of uncertain significance for Cornelia de Lange syndrome.

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.