ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4022A>T (p.Gln1341Leu)

dbSNP: rs1555617325
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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 RCV002317214 SCV000670479 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-02-08 criteria provided, single submitter clinical testing The p.Q1341L variant (also known as c.4022A>T), located in coding exon 30 of the NF1 gene, results from an A to T substitution at nucleotide position 4022. The glutamine at codon 1341 is replaced by leucine, an amino acid with dissimilar 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 RCV001295377 SCV001484296 uncertain significance Neurofibromatosis, type 1 2024-12-04 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1341 of the NF1 protein (p.Gln1341Leu). 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: 484054). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt NF1 protein function with a negative 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.
Genome-Nilou Lab RCV001295377 SCV002560364 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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