ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1540C>T (p.Gln514Ter)

dbSNP: rs1316926587
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659991 SCV000781913 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000659991 SCV002165119 pathogenic Neurofibromatosis, type 1 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln514*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 25541118). ClinVar contains an entry for this variant (Variation ID: 547594). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000659991 SCV002561673 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397340 SCV002705892 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-02-08 criteria provided, single submitter clinical testing The p.Q514* pathogenic mutation (also known as c.1540C>T), located in coding exon 14 of the NF1 gene, results from a C to T substitution at nucleotide position 1540. This changes the amino acid from a glutamine to a stop codon within coding exon 14. 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724121 SCV001958777 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724121 SCV001974385 pathogenic not provided no assertion criteria provided clinical testing

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