ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.789C>T (p.Asn263=)

dbSNP: rs1555996218
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546490 SCV000628880 likely benign Neurofibromatosis, type 2 2022-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420371 SCV002676888 likely benign Hereditary cancer-predisposing syndrome 2021-04-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV000546490 SCV004829157 uncertain significance Neurofibromatosis, type 2 2023-08-23 criteria provided, single submitter clinical testing This variant is located in the NF2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with NF2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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