ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.243_248del (p.Leu82_Asp83del)

gnomAD frequency: 0.00004  dbSNP: rs777858863
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632642 SCV000753827 uncertain significance Neurofibromatosis, type 2 2024-01-08 criteria provided, single submitter clinical testing This variant, c.243_248del, results in the deletion of 2 amino acid(s) of the NF2 protein (p.Leu82_Asp83del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs777858863, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 527697). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001015508 SCV001176350 likely benign Hereditary cancer-predisposing syndrome 2023-04-06 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.
Genome-Nilou Lab RCV000632642 SCV002044840 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000632642 SCV004832133 uncertain significance Neurofibromatosis, type 2 2023-10-02 criteria provided, single submitter clinical testing This variant causes a deletion of two consecutive amino acids at codons 82 and 83 of 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 been identified in 9/251458 chromosomes 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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