ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala) (rs143537405)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188212 SCV000241819 uncertain significance not provided 2018-11-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NHLRC1 gene. The V141A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V141A variant is observed in 117/23662 (0.5%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The V141A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Additionally, missense variants in a nearby residue have been reported in the Human Gene Mutation Database in association with Lafora disease (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000188212 SCV000636489 likely benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718341 SCV000849203 uncertain significance Seizures 2017-03-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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.