Submissions for variant NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions

Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
SIB Swiss Institute of Bioinformatics	RCV001003393	SCV001432973	likely pathogenic	CEBALID syndrome	2020-07-29	criteria provided, single submitter	curation	This variant is interpreted as Likely 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).
Dr. Peter K. Rogan Lab, Western University	RCV005912361	SCV006959611	not provided	Thyroid cancer, nonmedullary, 1		no classification provided	in vitro
University of Washington Center for Mendelian Genomics, University of Washington	RCV001258019	SCV001434833	likely pathogenic	MN1 C-terminal truncation (MCTT) syndrome		no assertion criteria provided	research
OMIM	RCV001003393	SCV001161680	pathogenic	CEBALID syndrome	2020-02-14	no assertion criteria provided	literature only

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