ClinVar Miner

Submissions for variant NM_017871.6(INTS11):c.936dup (p.Ala313fs)

dbSNP: rs556125116
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV004555992 SCV005045126 likely pathogenic Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 2024-02-01 criteria provided, single submitter clinical testing The INTS11 c.936dup (p.Ala313CysfsTer2) variant, also known as c.954dup (p.Ala319CysfsTer2) on NM_001256456.2, has been reported in one individual with NEDMLOB (Tepe B et al., PMID: 37054711). This variant is only observed on 23/281,410 alleles in the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant causes a frameshift by duplicating a single nucleotide, leading to a premature termination codon, which is predicted to lead to nonsense mediated decay. Based on available information and the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as likely pathogenic.

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.