ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu)

gnomAD frequency: 0.00001  dbSNP: rs778799019
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572639 SCV000663113 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-10 criteria provided, single submitter clinical testing The p.P2717L variant (also known as c.8150C>T), located in coding exon 56 of the NF1 gene, results from a C to T substitution at nucleotide position 8150. The proline at codon 2717 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 0.001% (greater than 110000alleles tested) in our clinical cohort. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive.Since supporting evidence is limited at this time, the clinical significance of this alterationremains unclear.
GeneDx RCV000681184 SCV000808642 uncertain significance not provided 2023-03-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed de novo in an individual undergoing whole exome sequencing due to an orofacial cleft; however, further clinical details were not provided (Bishop et al., 2020); Not observed in any cases, but was observed in unaffected controls from a breast cancer study (Dorling et al., 2021); This variant is associated with the following publications: (PMID: 30089490, 32372504, 25486365, 32574564, 33471991)
Labcorp Genetics (formerly Invitae), Labcorp RCV000804420 SCV000944331 likely benign Neurofibromatosis, type 1 2025-01-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000804420 SCV002561177 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420548 SCV002678501 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-06-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002476216 SCV002781397 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-12-14 criteria provided, single submitter clinical testing

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