ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7455_7456dup (p.Arg2486fs)

dbSNP: rs2151574678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001908507 SCV002167427 pathogenic Neurofibromatosis, type 1 2020-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2465Ilefs*4) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV004996072 SCV005459486 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-10-17 criteria provided, single submitter clinical testing The c.7392_7393dupTA pathogenic mutation, located in coding exon 49 of the NF1 gene, results from a duplication of TA at nucleotide position 7392, causing a translational frameshift with a predicted alternate stop codon (p.R2465Ifs*4). 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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