ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.1658_1659del (p.Tyr553fs)

dbSNP: rs1591041141
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797769 SCV000937348 uncertain significance Leukocyte adhesion deficiency 3 2018-08-28 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FERMT3 gene (p.Tyr553Cysfs*57). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 112 amino acids of the FERMT3 protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. The observation of one or more missense substitutions downstream of this variant (p.Gln595Pro) in affected individuals suggests that this may be a clinically significant region of the FERMT3 protein (PMID: 26359933). This variant has not been reported in the literature in individuals with FERMT3-related disease. This variant is not present in population databases (ExAC no frequency).

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