ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6691G>A (p.Glu2231Lys)

dbSNP: rs1024484381
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541011 SCV000628725 benign Neurofibromatosis, type 1 2024-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314941 SCV000663212 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-06-20 criteria provided, single submitter clinical testing The p.E2210K variant (also known as c.6628G>A), located in coding exon 43 of the NF1 gene, results from a G to A substitution at nucleotide position 6628. The glutamic acid at codon 2210 is replaced by lysine, an amino acid with similar 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.
Genome-Nilou Lab RCV000541011 SCV002560986 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005018912 SCV005639940 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-05-21 criteria provided, single submitter clinical testing

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