ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala)

gnomAD frequency: 0.00003  dbSNP: rs370209920
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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 RCV000166305 SCV000217089 uncertain significance Hereditary cancer-predisposing syndrome 2015-05-29 criteria provided, single submitter clinical testing Thep.T2335A variant (also known as c.7003A>G or c.6940A>G), located in coding exon 47 of theNF1 gene, results from an A to G substitution at nucleotide position 7003. The threonine at codon 2335 is replaced by alanine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs370209920. Based on data from the NHLBI Exome Sequencing Project (ESP), the G-allele has an overall frequency of approximately 0.01% (1/13006) total alleles studied,having been observed in 0% (0/4406) African American allelesand 0.01% (1/8600) European American alleles. This variant was not reported in the 1000 Genomes Project population-based cohort. To date, this alteration has been detected with an allele frequency of approximately 0.01% (greater than 55000 alleles tested) in our clinical cohort. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be benign and deleterious by PolyPhen and SIFTin silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.T2335A remains unclear.
Invitae RCV000476769 SCV000542213 likely benign Neurofibromatosis, type 1 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001582656 SCV001811481 uncertain significance not provided 2019-04-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000476769 SCV002561021 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498823 SCV002779432 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-12-21 criteria provided, single submitter clinical testing

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