ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1667_1670del (p.Asp556fs)

dbSNP: rs1135402819
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000497191 SCV002231856 pathogenic Neurofibromatosis, type 1 2023-04-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 431595). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 24789688). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp556Alafs*11) 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).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000497191 SCV004102640 pathogenic Neurofibromatosis, type 1 2023-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559130 SCV005048507 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-06-05 criteria provided, single submitter clinical testing The c.1667_1670delATAG pathogenic mutation, located in coding exon 15 of the NF1 gene, results from a deletion of 4 nucleotides at nucleotide positions 1667 to 1670, causing a translational frameshift with a predicted alternate stop codon (p.D556Afs*11). 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.
Medical Genetics, University of Parma RCV000497191 SCV000588731 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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