ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4103T>C (p.Leu1368Ser)

dbSNP: rs1597735265
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002319315 SCV001183546 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-02-23 criteria provided, single submitter clinical testing The p.L1368S variant (also known as c.4103T>C), located in coding exon 30 of the NF1 gene, results from a T to C substitution at nucleotide position 4103. The leucine at codon 1368 is replaced by serine, 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.
Invitae RCV001297435 SCV001486447 uncertain significance Neurofibromatosis, type 1 2023-07-08 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1368 of the NF1 protein (p.Leu1368Ser). 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. 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. ClinVar contains an entry for this variant (Variation ID: 824597). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency).
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238269 SCV002009296 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001297435 SCV002560380 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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