ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7581del (p.Gln2528fs)

dbSNP: rs878853917
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228812 SCV000284515 pathogenic Neurofibromatosis, type 1 2023-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2507Asnfs*20) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with neurofibromatosis, type 1 (PMID: 31370276). ClinVar contains an entry for this variant (Variation ID: 237598). For these reasons, this variant has been classified as Pathogenic.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000228812 SCV000782106 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000228812 SCV002560580 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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