ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4536G>A (p.Trp1512Ter)

dbSNP: rs878853897
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092508 SCV001249049 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
Invitae RCV001873457 SCV002139552 pathogenic Neurofibromatosis, type 1 2022-10-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 872183). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 10712197). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1491*) 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).
Genome-Nilou Lab RCV001873457 SCV002560061 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001092508 SCV001977769 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001092508 SCV001980223 pathogenic not provided no assertion criteria provided clinical testing

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