ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter) (rs1131691073)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492525 SCV000581247 pathogenic Hereditary cancer-predisposing syndrome 2014-05-27 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763394 SCV000894108 pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000657644 SCV000779390 pathogenic not provided 2016-11-28 criteria provided, single submitter clinical testing This variant is denoted NF1 c.6907C>T at the cDNA level and p.Gln2303Ter (Q2303X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least one individual with neurofibromatosis type 1 (Valero 2011) and is considered pathogenic.

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