ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.1546A>G (p.Met516Val)

gnomAD frequency: 0.00004  dbSNP: rs751646059
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690894 SCV000818623 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-11-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730780 SCV000858543 uncertain significance not provided 2017-12-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000730780 SCV003829308 uncertain significance not provided 2019-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004601244 SCV005098309 uncertain significance Inborn genetic diseases 2024-04-23 criteria provided, single submitter clinical testing The c.1546A>G (p.M516V) alteration is located in exon 15 (coding exon 13) of the CC2D2A gene. This alteration results from a A to G substitution at nucleotide position 1546, causing the methionine (M) at amino acid position 516 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.