ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.17C>T (p.Pro6Leu)

dbSNP: rs864622210
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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 RCV000206070 SCV000259703 likely benign Neurofibromatosis, type 1 2024-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317732 SCV000670582 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-09-16 criteria provided, single submitter clinical testing The p.P6L variant (also known as c.17C>T), located in coding exon 1 of the NF1 gene, results from a C to T substitution at nucleotide position 17. The proline at codon 6 is replaced by leucine, an amino acid with similar properties. This amino acid position is well 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 RCV000206070 SCV002561389 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494520 SCV002799704 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-03-24 criteria provided, single submitter clinical testing

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