ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG

dbSNP: rs1554260851
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482342 SCV000568791 likely pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); Canonical splice site variant with an unclear effect on protein function; This variant is associated with the following publications: (PMID: 22683713, 27290639, 27331002)
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814159 SCV002061683 likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2021-11-09 criteria provided, single submitter clinical testing PVS1, PM2
Genome-Nilou Lab RCV001814159 SCV002554570 likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003889905 SCV004105205 likely pathogenic SERAC1-related disorder 2022-10-07 criteria provided, single submitter clinical testing The SERAC1 c.1822_1828+10delinsACCAACAGG variant is predicted to result in an in-frame deletion and insertion. This variant is predicted to result in frameshift and premature protein termination, however as the deletion/insertion includes the exon 16/intron 16 boundary, this variant is also predicted to abolish the canonical splice donor site based on splicing prediction programs (Alamut Visual v2.11). This variant was reported in homozygous and compound heterozygous states in multiple individuals with 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (Wortmann et al. 2012. PubMed ID: 22683713; Pronicka et al. 2016. PubMed ID: 27290639). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV000482342 SCV005199049 likely pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing

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.