ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5266A>T (p.Lys1756Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003058548 SCV003441780 pathogenic Neurofibromatosis, type 1 2022-05-13 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with neurofibromatosis, type 1 (PMID: 25074460). 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 create or strengthen a splice site. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1735*) 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).

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