ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.467G>T (p.Arg156Leu)

dbSNP: rs754096545
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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 RCV000216562 SCV000277237 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-16 criteria provided, single submitter clinical testing The p.R156L variant (also known as c.467G>T), located in coding exon 4 of the NF1 gene, results from a G to T substitution at nucleotide position 467. The arginine at codon 156 is replaced by leucine, an amino acid with dissimilar 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 0.002% (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.R156Lremains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000632459 SCV000753643 likely benign Neurofibromatosis, type 1 2024-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000681084 SCV000808538 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing This variant is denoted NF1 c.467G>T at the cDNA level, p.Arg156Leu (R156L) at the protein level, and results in the change of an Arginine to a Leucine (CGC>CTC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. NF1 Arg156Leu was observed at an allele frequency of 0.0032% (1/30,780) in individuals of South Asian ancestry in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In-silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether NF1 Arg156Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Genome-Nilou Lab RCV000632459 SCV002561465 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558549 SCV005048145 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-09-03 criteria provided, single submitter clinical testing The c.467G>T (p.R156L) alteration is located in exon 4 (coding exon 4) of the NF1 gene. This alteration results from a G to T substitution at nucleotide position 467, causing the arginine (R) at amino acid position 156 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000681084 SCV005624606 uncertain significance not provided 2024-07-24 criteria provided, single submitter clinical testing

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