ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5186_5187insG (p.Thr1730fs)

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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 RCV002344196 SCV002645588 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-01-20 criteria provided, single submitter clinical testing The c.5123_5124insG pathogenic mutation, located in coding exon 36 of the NF1 gene, results from an insertion of one nucleotide at position 5123, causing a translational frameshift with a predicted alternate stop codon (p.T1709Hfs*27). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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