ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3161_3165del (p.Asn1054fs)

dbSNP: rs1555614642
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315846 SCV000674100 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-01-16 criteria provided, single submitter clinical testing The c.3161_3165delACCAA pathogenic mutation, located in coding exon 24 of the NF1 gene, results from a deletion of 5 nucleotides at nucleotide positions 3161 to 3165, causing a translational frameshift with a predicted alternate stop codon (p.N1054Sfs*4). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000702190 SCV000831034 pathogenic Neurofibromatosis, type 1 2024-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1054Serfs*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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 485960). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000702190 SCV002559934 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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