ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)

gnomAD frequency: 0.00001  dbSNP: rs1283946778
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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 RCV000632368 SCV000753546 likely benign Neurofibromatosis, type 1 2024-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438658 SCV001189314 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-06-28 criteria provided, single submitter clinical testing The p.T2609S variant (also known as c.7826C>G), located in coding exon 53 of the NF1 gene, results from a C to G substitution at nucleotide position 7826. The threonine at codon 2609 is replaced by serine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000632368 SCV002561154 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499044 SCV002815548 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-05-05 criteria provided, single submitter clinical testing
GeneDx RCV003313115 SCV004012601 uncertain significance not provided 2024-03-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25486365)

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