ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.2422ACA[1] (p.Thr809del)

dbSNP: rs1553636502
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000755709 SCV000883168 uncertain significance Spondylometaphyseal dysplasia - Sutcliffe type 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Spondylometaphyseal dysplasia, corner fracture type, autosomal dominant. The following ACMG Tag(s) were applied: PM6 => Assumed de novo, but without confirmation of paternity and maternity (https://www.ncbi.nlm.nih.gov/pubmed/29100092). PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
CHU Sainte-Justine Research Center, University of Montreal RCV000509584 SCV000574558 likely pathogenic Spondylometaphyseal dysplasia 2017-02-25 no assertion criteria provided research 6 Individuals with novel FN1 mutations and spondylometaphyseal dysplasia
GeneReviews RCV000755709 SCV001364088 not provided Spondylometaphyseal dysplasia - Sutcliffe type no assertion provided literature only

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