ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1228C>T (p.Gln410Ter)

dbSNP: rs1556000842
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498250 SCV000589607 pathogenic not provided 2017-06-19 criteria provided, single submitter clinical testing The Q410X nonsense variant has been reported previously as a mosaic variant in association with neurofibromatosis type 2 (Kluwe et al., 2003; Evans et al., 2005). 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; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, we consider this variant to be pathogenic.

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