ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6703A>T (p.Arg2235Ter)

dbSNP: rs2151557558
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001905958 SCV002152131 pathogenic Neurofibromatosis, type 1 2021-09-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 10543400, 29673180). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg2214*) 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).
Swedish National ChiCaP Initative, Genomic Medicine Sweden RCV004797963 SCV005419213 pathogenic NF1-related disorder 2024-05-01 criteria provided, single submitter clinical testing

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