ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1261-19G>A

dbSNP: rs1597688663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genomics Laboratory, Department of Genetics UAB RCV001007739 SCV001167414 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318902 SCV001170826 likely pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-02-20 criteria provided, single submitter clinical testing The c.1261-19G>A intronic variant results from a G to A substitution 19 nucleotides upstream from coding exon 12 in the NF1 gene. This alteration has been reported in patients with clinical diagnoses of neurofibromatosis type 1 (Nemethova M et al. Ann. Hum. Genet. 2013 Sep;77(5):364-79; Ambry internal data). In addition, RNA studies have shown that this intronic variant creates a novel splice site in intron 11, causing a transcriptional frameshift with a resulting premature stop codon (Nemethova M et al. Ann. Hum. Genet. 2013 Sep;77(5):364-79; Vandenbroucke J et al. FEBS Letters 522 (2002) 71-76). Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Genome-Nilou Lab RCV001007739 SCV002561651 likely pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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