ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter)

dbSNP: rs1555614867
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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 RCV000660032 SCV000781979 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000660032 SCV002195817 pathogenic Neurofibromatosis, type 1 2021-10-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change creates a premature translational stop signal (p.Lys1105*) 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 variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 547625).
Genome-Nilou Lab RCV000660032 SCV002559948 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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