ClinVar Miner

Submissions for variant NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter)

dbSNP: rs1601319501
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997888 SCV001153643 pathogenic not provided 2024-03-01 criteria provided, single submitter clinical testing MN1: PM6:Strong, PM2, PS4:Moderate, PVS1:Moderate
SIB Swiss Institute of Bioinformatics RCV001003397 SCV001432978 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 supporting).
GeneDx RCV000997888 SCV001989864 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; This variant is associated with the following publications: (PMID: 31834374)
Baylor Genetics RCV001003397 SCV004040764 pathogenic CEBALID syndrome 2023-06-02 criteria provided, single submitter clinical testing
OMIM RCV001003397 SCV001161684 pathogenic CEBALID syndrome 2020-02-14 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001258027 SCV001434841 likely pathogenic MN1 C-terminal truncation (MCTT) syndrome no assertion criteria provided research
GeneReviews RCV001003397 SCV001469063 not provided CEBALID syndrome no assertion provided literature only Recurrent pathogenic variant in 3 out of 25 persons
Solve-RD Consortium RCV004768771 SCV005091262 likely pathogenic Familial meningioma 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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