ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.724dup (p.Met242fs)

dbSNP: rs1555608763
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518858 SCV000617574 pathogenic not provided 2017-11-06 criteria provided, single submitter clinical testing The c.724dupA variant has been reported previously in association with neurofibromatosis type 1 (Ars et al., 2000; Pros et al., 2008). The duplication causes a frameshift starting with codon Methionine 242, changes this amino acid to an Asparagine residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Met242AsnfsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000806565 SCV000946569 pathogenic Neurofibromatosis, type 1 2024-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met242Asnfs*3) 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 premature translational stop signal has been observed in individual(s) with neurofibromatosis Type 1 (PMID: 10607834, 18546366, 23913538). This variant is also known as c.723insA. ClinVar contains an entry for this variant (Variation ID: 449421). For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000806565 SCV001479040 pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000806565 SCV002561596 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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