ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6031C>G (p.Leu2011Val)

dbSNP: rs1567616649
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681132 SCV000808590 uncertain significance not provided 2018-02-27 criteria provided, single submitter clinical testing The L1990V variant in the NF1 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The L1990V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. We consider it to be a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002493127 SCV002792006 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-10-19 criteria provided, single submitter clinical testing

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