ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3686del (p.Asn1229fs)

dbSNP: rs1555615103
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Total submissions: 3
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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 RCV000660042 SCV000781994 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000660042 SCV000963753 pathogenic Neurofibromatosis, type 1 2018-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1229Metfs*11) in the NF1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has been observed in an individual affected with neurofibromatosis type 1 (PMID: 14517963). ClinVar contains an entry for this variant (Variation ID: 547633). This variant is not present in population databases (ExAC no frequency).
Genome-Nilou Lab RCV000660042 SCV002559979 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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