ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4109A>C (p.Gln1370Pro)

dbSNP: rs1135402853
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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 RCV002319012 SCV001183552 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-03-30 criteria provided, single submitter clinical testing The p.Q1370P variant (also known as c.4109A>C), located in coding exon 30 of the NF1 gene, results from an A to C substitution at nucleotide position 4109. The glutamine at codon 1370 is replaced by proline, an amino acid with similar properties. This variant has been reported in an individual with a clinical suspicion of neurofibromatosis type 1 (NF1) (Bonatti F et al. Int J Mol Sci, 2017 Sep;18:). 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 RCV000497125 SCV001391591 uncertain significance Neurofibromatosis, type 1 2024-08-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1370 of the NF1 protein (p.Gln1370Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 28961165). ClinVar contains an entry for this variant (Variation ID: 431633). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV000497125 SCV002560381 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV000497125 SCV000588773 uncertain significance Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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