ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7325T>A (p.Leu2442Ter)

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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 RCV002382544 SCV002672501 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-03-30 criteria provided, single submitter clinical testing The p.L2421* pathogenic mutation (also known as c.7262T>A), located in coding exon 49 of the NF1 gene, results from a T to A substitution at nucleotide position 7262. This changes the amino acid from a leucine to a stop codon within coding exon 49. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003103381 SCV003346388 pathogenic Neurofibromatosis, type 1 2022-04-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NF1-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu2421*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538).

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