ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4489dup (p.Ser1497fs)

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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 RCV003084907 SCV003482882 pathogenic Neurofibromatosis, type 1 2022-01-23 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 neurofibromatosis, type 1 (PMID: 29673180). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1476Phefs*5) 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).
3billion, Medical Genetics RCV003084907 SCV004013651 pathogenic Neurofibromatosis, type 1 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with NF1 related disorder (PMID: 29673180). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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