ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6439_6442del (p.Gln2147fs)

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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 RCV003599527 SCV004503047 pathogenic Neurofibromatosis, type 1 2023-09-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2126Phefs*2) 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 NF1-related conditions (Invitae). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004794654 SCV005414783 pathogenic not provided 2024-05-21 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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