ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.1601_1602del (p.Glu534fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV003335907 SCV004046196 pathogenic Leukocyte adhesion deficiency 3 criteria provided, single submitter clinical testing This frameshifting variant in exon 13 of 15 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been previously reported or functionally characterized in the literature to our knowledge. A loss-of-function variant further 3' to this variant has been previously reported in patients with Leukocyte adhesion deficiency type 3 (PMID: 20216991, 31589614), and loss-of-function variants in FERMT3 are known to be disease causing (HGMD; ClinVar database; PMID: 19064721, 19234463, 22134107). It is absent from the gnomAD population database and thus is presumed to be rare. Based on the available evidence, the c.1613_1614del (p.Glu538GlyfsTer76) variant is classified as Pathogenic.

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