ClinVar Miner

Submissions for variant NM_052867.4(NALCN):c.3064A>G (p.Ile1022Val)

dbSNP: rs1555381108
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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000622774 SCV000740312 likely pathogenic Congenital contractures of the limbs and face, hypotonia, and developmental delay 2018-03-22 criteria provided, single submitter clinical testing
3billion RCV000622774 SCV003841445 uncertain significance Congenital contractures of the limbs and face, hypotonia, and developmental delay 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.61; 3Cnet: 0.37). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with autosomal dominant congenital contractures of the limbs and face, hypotonia, and developmental delay (ClinVar ID: VCV000520429). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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.