ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.-2_3del (p.Met1fs)

dbSNP: rs2544510995
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002417155 SCV002721559 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-06-29 criteria provided, single submitter clinical testing The c.-2_3delACATG pathogenic mutation (also known as p.M1?) is located in coding exon 1 of the NF1 gene and results from a deletion of ACATG at nucleotide positions -2 to 3. This alters the methionine residue at the initiation codon (ATG). This alteration has been observed in at least one individual with a clinical diagnosis of neurofibromatosis type 1 (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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