Submissions for variant NM_212482.4(FN1):c.260G>T (p.Cys87Phe)

dbSNP: rs1553669703

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
SIB Swiss Institute of Bioinformatics	RCV000566441	SCV000883245	likely pathogenic	Spondylometaphyseal dysplasia - Sutcliffe type	2018-10-15	criteria provided, single submitter	curation	This variant is interpreted as Likely Pathogenic, for Spondylometaphyseal dysplasia, corner fracture type, autosomal dominant. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease. PM1 => Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation (http://www.uniprot.org/uniprot/P02751). PS3-Moderate => PS3 downgraded in strength to Moderate (https://www.ncbi.nlm.nih.gov/pubmed/29100092).
CHU Sainte-Justine Research Center, University of Montreal	RCV000509586	SCV000574553	likely pathogenic	Spondylometaphyseal dysplasia	2017-02-25	no assertion criteria provided	research	6 Individuals with novel FN1 mutations and spondylometaphyseal dysplasia
OMIM	RCV000566441	SCV000676921	pathogenic	Spondylometaphyseal dysplasia - Sutcliffe type	2017-12-28	no assertion criteria provided	literature only
GeneReviews	RCV000566441	SCV001364086	not provided	Spondylometaphyseal dysplasia - Sutcliffe type		no assertion provided	literature only