ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1346_1347del (p.Lys449fs) (rs1556001351)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522897 SCV000622092 pathogenic not provided 2017-11-10 criteria provided, single submitter clinical testing The c.1346_1347delAA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant causes a frameshift starting with codon Lysine 449, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 45 of the new reading frame, denoted p.Lys449ArgfsX45. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.
Invitae RCV000528431 SCV000628850 pathogenic Neurofibromatosis, type 2 2017-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys449Argfs*45) in the NF2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF2-related disease. Loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). For these reasons, this variant has been classified as Pathogenic.

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