ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7509C>A (p.Tyr2503Ter)

dbSNP: rs1555536359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317300 SCV000670581 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-06-20 criteria provided, single submitter clinical testing The p.Y2482* pathogenic mutation (also known as c.7446C>A), located in coding exon 50 of the NF1 gene, results from a C to A substitution at nucleotide position 7446. This changes the amino acid from a tyrosine to a stop codon within coding exon 50. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003139875 SCV003807575 likely pathogenic Neurofibromatosis, type 1 2022-07-15 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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