ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3625G>C (p.Val1209Leu)

dbSNP: rs1458579232
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709417 SCV000839143 uncertain significance Neurofibromatosis, type 1 2018-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000709417 SCV001376586 uncertain significance Neurofibromatosis, type 1 2024-05-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1209 of the NF1 protein (p.Val1209Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 584930). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NF1 protein function with a positive predictive value of 95%. 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.
GeneDx RCV001759428 SCV002005189 uncertain significance not provided 2019-06-20 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Sema4, Sema4 RCV002256492 SCV002527524 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-22 criteria provided, single submitter curation
Genome-Nilou Lab RCV000709417 SCV002560314 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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