ClinVar Miner

Submissions for variant NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) (rs147334255)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190793 SCV000244234 pathogenic Inborn genetic diseases 2020-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000413400 SCV000491051 uncertain significance not specified 2016-12-02 criteria provided, single submitter clinical testing The R1295X variant in the MN1 gene has been reported previously as a de novo finding identified via whole exome sequencing in a single patient with generalized epilepsy (Helbig et al., 2016). This variant is predicted to cause loss of normal protein function through protein truncation. The R1295X variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R1295X as a variant of uncertain significance.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726804 SCV000703181 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV001003395 SCV001432977 pathogenic CEBALID syndrome 2020-07-29 criteria provided, single submitter curation This variant is interpreted as Pathogenic for CEBALID syndrome, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Protein length changes as a result of in-frame deletions/insertions in a nonrepeat region or stop-loss variants (PM4); De novo (paternity and maternity confirmed) (PS2 upgraded to very strong); Prevalence in affected individuals statistically increased over controls (PS4 downgraded to moderate).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000726804 SCV001501834 likely pathogenic not provided 2020-07-01 criteria provided, single submitter clinical testing
OMIM RCV001003395 SCV001161682 pathogenic CEBALID syndrome 2020-02-14 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001258025 SCV001434839 likely pathogenic MN1 C-terminal truncation (MCTT) syndrome no assertion criteria provided research
GeneReviews RCV001003395 SCV001469062 pathogenic CEBALID syndrome 2020-08-11 no assertion criteria provided literature only Recurrent pathogenic variant in 9 out of 25 persons

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