ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.848A>G (p.Asp283Gly)

dbSNP: rs878853921
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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 RCV000231223 SCV000284533 benign Neurofibromatosis, type 1 2024-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311337 SCV000663006 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-08-30 criteria provided, single submitter clinical testing The c.848A>G (p.D283G) alteration is located in exon 8 (coding exon 8) of the NF1 gene. This alteration results from a A to G substitution at nucleotide position 848, causing the aspartic acid (D) at amino acid position 283 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000231223 SCV002561835 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567718 SCV005052271 uncertain significance Juvenile myelomonocytic leukemia 2024-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005016620 SCV005647000 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-02-06 criteria provided, single submitter clinical testing

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