ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3G>A (p.Met1Ile)

dbSNP: rs1598173737
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802449 SCV000942281 pathogenic Neurofibromatosis, type 1 2022-02-10 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the NF1 mRNA. The next in-frame methionine is located at codon 68. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 647845). Disruption of the initiator codon has been observed in individual(s) with neurofibromatosis type 1 (PMID: 18041031, 23668869, 23913538). This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV002325548 SCV002626212 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-10-09 criteria provided, single submitter clinical testing The p.M1? variant (also known as c.3G>A), located in coding exon 1 of the NF1 gene, results from a G to A substitution at nucleotide position 3. This alters the methionine residue at the initiation codon. This alteration was detected in one individual who meets National Institute of Health Neurofibromatosis Type 1 clinical criteria (Sabbagh A et al. Hum. Mutat., 2013 Nov;34:1510-8). In addition to the clinical data presented in the literature, since sequence variations that modify the initiation codon (ATG) are expected to result in either loss of translation initiation, N-terminal truncation, or cause a shift in the mRNA reading frame, this alteration is interpreted as a disease-causing mutation.

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