ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) (rs1057518665)

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
PreventionGenetics,PreventionGenetics RCV000721843 SCV000852988 likely pathogenic not provided 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000415415 SCV001409807 pathogenic Cerebral cavernous malformation 2019-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg49Lysfs*14) in the KRIT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KRIT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 374400). Loss-of-function variants in KRIT1 are known to be pathogenic (PMID: 10508515, 11222804, 12404106, 24689081). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000415415 SCV000328740 likely pathogenic Cerebral cavernous malformation 2016-05-01 no assertion criteria provided clinical testing Our laboratory reported two molecular diagnoses in COL11A1 (NM_080630.2:c.2754+5G>A) and KRIT1 (NM_194456.1:c.146_147del) in an individual with hearing loss, tics, dysmorphic features, macrocephaly, vision loss, chronic otitis media, reactive airway disease, food allergy, urticaria, eczema, and keratosis pilaris.

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.