ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.289-4T>G

gnomAD frequency: 0.00001  dbSNP: rs1258767746
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000936453 SCV001082221 likely benign Neurofibromatosis, type 1 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319602 SCV001177836 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-01-21 criteria provided, single submitter clinical testing The c.289-4T>G intronic variant results from a T to G substitution 4 nucleotides upstream from coding exon 4 in the NF1 gene. This nucleotide position is well conserved in available vertebrate species. This alteration is predicted by the BDGP splicing model to weaken the efficiency of the native splice acceptor site, but is not predicted to have a deleterious effect by ESEfinder; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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