ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5365G>T (p.Glu1789Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Dr. Eberhard & Partner Dortmund RCV003496837 SCV004363593 pathogenic Neurofibromatosis, type 1 2023-08-21 criteria provided, single submitter clinical testing This variant was absent from variant databases and control databases. The nucleotide change at that position is supposed to lead to a premature stop codon. Therefore the mutation is a null variant in a gene where loss of function is a known mechanism of disease.

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