ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2597C>T (p.Pro866Leu)

gnomAD frequency: 0.00001  dbSNP: rs767159555
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220387 SCV000275111 uncertain significance Hereditary cancer-predisposing syndrome 2015-04-10 criteria provided, single submitter clinical testing The p.P866L variant (also known as c.2597C>T), located in coding exon 21 of the NF1 gene, results from a C to T substitution at nucleotide position 2597. The proline at codon 866 is replaced by leucine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.004% (greater than 55000alleles tested) in our clinical cohort.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 p.P866L remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000632379 SCV000753557 likely benign Neurofibromatosis, type 1 2024-10-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000632379 SCV002562066 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558510 SCV005047641 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-12-02 criteria provided, single submitter clinical testing The c.2597C>T (p.P866L) alteration is located in exon 21 (coding exon 21) of the NF1 gene. This alteration results from a C to T substitution at nucleotide position 2597, causing the proline (P) at amino acid position 866 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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