ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1261-4C>G

dbSNP: rs587781820
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130096 SCV000184926 uncertain significance Hereditary cancer-predisposing syndrome 2014-02-14 criteria provided, single submitter clinical testing The c.1261-4C>G intronic variant results from a C to G substitution 4 nucleotides upstream from coding exon 12 in the NF1 gene. 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. This nucleotide position is not well conserved in available vertebrate species. In addition, the BDGP and ESEfinder in silico splicing models do not predict any significant effect on the native splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of c.1261-4C>G remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002514724 SCV002960822 likely benign Neurofibromatosis, type 1 2023-09-30 criteria provided, single submitter clinical testing

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