ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.100G>A (p.Val34Ile)

gnomAD frequency: 0.00003  dbSNP: rs772995929
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165635 SCV000216371 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-30 criteria provided, single submitter clinical testing The p.V34I variant (also known as c.100G>A), located in coding exon 2 of the NF1 gene, results from a G to A substitution at nucleotide position 100. The valine at codon 34 is replaced by isoleucine, an amino acid with highly 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 55000 alleles tested) in our clinical cohort.This amino acid position is highly conserved in available vertebrate species. However, this alteration is predicted to be benign and tolerated by PolyPhen and SIFT in silico analyses, respectively.Since supporting evidence is limited at this time, the clinical significance ofp.V34Iremains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000534740 SCV000628341 likely benign Neurofibromatosis, type 1 2023-12-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000534740 SCV002561406 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478510 SCV002778074 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558377 SCV005048700 benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-06-30 criteria provided, single submitter clinical testing This alteration is classified as 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.

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