ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1737+1420C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV001526821 SCV001737475 uncertain significance Neurofibromatosis, type 2 2021-05-27 criteria provided, single submitter clinical testing The NF2 c.1739C>T (p.Pro580Leu) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In silico tools are not in agreement about the effect of this variant on protein function, but to our knowledge these predictions have not been confirmed by functional assays. This variant is located adjacent to the acceptor splice site of intron 15, however RNA studies suggest that the variant does not affect splicing (internal data). To our knowledge, this variant has not been reported in individuals with Neurofibromatosis type 2. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: no criteria met.

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