ClinVar Miner

Submissions for variant NM_001385012.1(NBEA):c.6724C>G (p.Pro2242Ala)

dbSNP: rs2153013060
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776978 SCV002014007 uncertain significance not provided 2020-01-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004953065 SCV005455250 uncertain significance Inborn genetic diseases 2024-10-21 criteria provided, single submitter clinical testing The c.6724C>G (p.P2242A) alteration is located in exon 43 (coding exon 43) of the NBEA gene. This alteration results from a C to G substitution at nucleotide position 6724, causing the proline (P) at amino acid position 2242 to be replaced by an alanine (A). 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.