ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5829_5830insTG (p.Leu1944fs)

dbSNP: rs1597840008
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002327236 SCV001186528 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-11-27 criteria provided, single submitter clinical testing The c.5766_5767insTG pathogenic mutation, located in coding exon 39 of the NF1 gene, results from an insertion of two nucleotides at position 5766, causing a translational frameshift with a predicted alternate stop codon (p.L1923Cfs*7). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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