ClinVar Miner

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

dbSNP: rs1598173737
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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 RCV002319303 SCV001183270 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-02-14 criteria provided, single submitter clinical testing The p.M1? pathogenic mutation (also known as c.3G>C), located in coding exon 1 of the NF1 gene, results from a G to C substitution at nucleotide position 3. This alters the methionine residue at the initiation codon. A similar alteration, p.M1? (c.3G>A), has been detected in an individual who meets National Institute of Health Neurofibromatosis Type 1 clinical criteria (Sabbagh A et al. Hum. Mutat., 2013 Nov;34:1510-8). 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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