ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.246C>T (p.Pro82=)

gnomAD frequency: 0.00183  dbSNP: rs148244188
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248714 SCV000314788 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000721775 SCV000721823 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000721775 SCV000885149 likely benign not provided 2017-12-05 criteria provided, single submitter clinical testing Although the c.246C>T variant (rs148244188) has not been reported in the medical literature, it is listed in the Genome Aggregation Database (gnomAD) browser with an allele frequency of 0.3% in the non-Finnish European population (identified in 389 out of 126,714 chromosomes; 1 homozygote) and is classified as likely benign in ClinVar (Variant ID: 261968). The cytosine at nucleotide 246 is not conserved, and computational analyses predict that this variant does not affect splicing of the CCM2 mRNA (Alamut software v2.10.0). Therefore, based on the available information, the c.246C>T variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001087605 SCV001013205 benign Cerebral cavernous malformation 2 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450783 SCV002736214 likely benign Inborn genetic diseases 2022-05-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
CeGaT Center for Human Genetics Tuebingen RCV000721775 SCV004156861 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing CCM2: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics RCV000721775 SCV005227319 likely benign not provided criteria provided, single submitter not provided

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.