ClinVar Miner

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

dbSNP: rs1553669703
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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 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 ( PS3-Moderate => PS3 downgraded in strength to Moderate (
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

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