ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln)

gnomAD frequency: 0.00001  dbSNP: rs1466678870
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692563 SCV000820391 likely benign Neurofibromatosis, type 1 2024-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459688 SCV004198245 uncertain significance Juvenile myelomonocytic leukemia 2024-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559610 SCV005048610 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-02-27 criteria provided, single submitter clinical testing The c.1319G>A (p.R440Q) alteration is located in exon 12 (coding exon 12) of the NF1 gene. This alteration results from a G to A substitution at nucleotide position 1319, causing the arginine (R) at amino acid position 440 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000692563 SCV005402216 uncertain significance Neurofibromatosis, type 1 2024-02-02 criteria provided, single submitter clinical testing The NF1 c.1319G>A (p.Arg440Gln) missense change has a maximum founder subpopulation frequency of 0.01% and a maximum non-founder subpopulation frequency of 0.0009% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a deleterious effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Neurofibromatosis type 1. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV005021065 SCV005646684 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-01-08 criteria provided, single submitter clinical testing

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