ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val)

dbSNP: rs1408832954
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316602 SCV000666705 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-12-27 criteria provided, single submitter clinical testing The p.L1433V variant (also known as c.4297C>G), located in coding exon 32 of the NF1 gene, results from a C to G substitution at nucleotide position 4297. The leucine at codon 1433 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000632449 SCV000753630 benign Neurofibromatosis, type 1 2025-01-15 criteria provided, single submitter clinical testing
GeneDx RCV002254935 SCV002526266 uncertain significance not provided 2024-04-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25486365, 22807134)
Genome-Nilou Lab RCV000632449 SCV002560413 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Department of Human Genetics, Hannover Medical School RCV000632449 SCV005052076 uncertain significance Neurofibromatosis, type 1 2024-06-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV004569159 SCV005052325 uncertain significance Juvenile myelomonocytic leukemia 2023-11-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737838 SCV005346401 uncertain significance NF1-related disorder 2024-05-07 no assertion criteria provided clinical testing The NF1 c.4360C>G variant is predicted to result in the amino acid substitution p.Leu1454Val. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. This variant is interpreted as uncertain in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/481907/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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