ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2T>A (p.Met1Lys)

dbSNP: rs886041346
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659954 SCV000781858 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001090740 SCV001246442 likely pathogenic not provided 2019-12-01 criteria provided, single submitter clinical testing
Invitae RCV000659954 SCV002129925 pathogenic Neurofibromatosis, type 1 2023-06-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 547562). Disruption of the initiator codon has been observed in individuals with neurofibromatosis type 1 (PMID: 10712197, 23668869, 23913538). This sequence change affects the initiator methionine of the NF1 mRNA. The next in-frame methionine is located at codon 68.
Genome-Nilou Lab RCV000659954 SCV002561535 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440404 SCV002748630 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-08-20 criteria provided, single submitter clinical testing The p.M1? pathogenic mutation (also known as c.2T>A) is located in coding exon 1 of the NF1 gene and results from a T to A substitution at nucleotide position 2. This alters the methionine residue at the initiation codon (ATG). Sequence variations that modify the initiation codon are expected to result in either loss of translation initiation, N-terminal truncation, or cause a shift in the mRNA reading frame. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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