ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile)

gnomAD frequency: 0.00001  dbSNP: rs755749772
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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 RCV000166595 SCV000217399 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-26 criteria provided, single submitter clinical testing Thep.T2433Ivariant (also known as c.7298C>T), located in coding exon 49 of theNF1gene, results from a C to T substitution at nucleotide position 7298. The threonine at codon 2433 is replaced by isoleucine, 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 0.006% (greater than 110000 alleles 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 p.T2433I remains unclear.
Invitae RCV000467083 SCV000542192 likely benign Neurofibromatosis, type 1 2024-01-25 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000467083 SCV000782102 likely benign Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000467083 SCV001479080 uncertain significance Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001551525 SCV001772049 likely benign not provided 2020-09-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372051 SCV002672431 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-05-06 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.

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