ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5629_5630del (p.Leu1877fs)

dbSNP: rs2069448326
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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 RCV001036461 SCV001199826 pathogenic Neurofibromatosis, type 1 2022-11-16 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 22190595). This variant is also known as c.5565_5566 CTdel. This sequence change creates a premature translational stop signal (p.Leu1856Valfs*8) 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). ClinVar contains an entry for this variant (Variation ID: 835556). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003461432 SCV004199023 pathogenic Juvenile myelomonocytic leukemia 2021-07-14 criteria provided, single submitter clinical testing

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