ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3114-8T>G

dbSNP: rs1597717471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genomics Laboratory, Department of Genetics UAB RCV001007747 SCV001167425 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160164 SCV003854953 likely pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-01-17 criteria provided, single submitter clinical testing The c.3114-8T>G intronic variant results from a T to G substitution 8 nucleotides upstream from coding exon 24 in the NF1 gene. This variant has been detected in individuals with a clinical diagnosis or suspicion of neurofibromatosis type 1 (Wimmer K et al. Hum Mutat, 2020 06;41:1145-1156; Ambry internal data). RNA studies have demonstrated that this alteration results in an insertion of 7 nucleotides in intron 23 (Wimmer K et al. Hum Mutat, 2020 06;41:1145-1156; Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor site. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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