ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter)

dbSNP: rs1555533569
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Total submissions: 4
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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 RCV000660077 SCV000782049 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000660077 SCV001479222 pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000660077 SCV002201823 pathogenic Neurofibromatosis, type 1 2022-03-20 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.Ser1765*) 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 clinical features of neurofibromatosis type 1 (PMID: 10862084). ClinVar contains an entry for this variant (Variation ID: 547660).
Genome-Nilou Lab RCV000660077 SCV002560115 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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