ClinVar Miner

Submissions for variant NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter)

dbSNP: rs1933302820
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV001256178 SCV001432974 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); Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation (PM1); 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).
GeneDx RCV001773573 SCV001994506 uncertain significance not provided 2019-08-27 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed in large population cohorts (Lek et al., 2016); Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31834374)
Laboratoire de Genetique Biologique, CHU de Poitiers RCV001256178 SCV004101262 pathogenic CEBALID syndrome 2023-11-08 criteria provided, single submitter clinical testing The same variant was previously described by Mak et al., 2020 (PMID: 31834374). The patient analyzed by our Institution presents the same phenotype.
University of Washington Center for Mendelian Genomics, University of Washington RCV001258020 SCV001434834 likely pathogenic MN1 C-terminal truncation (MCTT) syndrome no assertion criteria provided research

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