ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4716dup (p.Met1573fs)

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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 RCV003021530 SCV003321417 pathogenic Neurofibromatosis, type 1 2022-10-19 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 clinical features of NF1-related conditions (PMID: 31776437). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met1552Tyrfs*3) 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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