ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2455del (p.His819fs)

dbSNP: rs1567848761
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708615 SCV000821751 pathogenic Hereditary cancer-predisposing syndrome 2020-01-01 criteria provided, single submitter clinical testing This variant is a single base pair deletion from exon 21 of the NF1 mRNA, causing a frameshift after codon 819 and this creates a premature translational stop signal 2 amino acid residues later. This is expected to result in an absent or disrupted protein product. Truncating variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has been described in the international literature in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747).
Labcorp Genetics (formerly Invitae), Labcorp RCV001387605 SCV001588276 pathogenic Neurofibromatosis, type 1 2024-03-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His819Metfs*2) 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 personal and/or family history of cancer (PMID: 31159747). ClinVar contains an entry for this variant (Variation ID: 584470). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001387605 SCV002561773 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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