ClinVar Miner

Submissions for variant NM_014611.3(MDN1):c.991A>G (p.Ile331Val)

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
Ambry Genetics RCV004341191 SCV004060071 uncertain significance not specified 2023-09-08 criteria provided, single submitter clinical testing The c.991A>G (p.I331V) alteration is located in exon 6 (coding exon 6) of the MDN1 gene. This alteration results from a A to G substitution at nucleotide position 991, causing the isoleucine (I) at amino acid position 331 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003936749 SCV004756561 benign MDN1-related disorder 2019-06-06 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.