ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1A>G (p.Met1Val)

dbSNP: rs1319282473
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001229737 SCV001402192 uncertain significance Neurofibromatosis, type 2 2022-02-11 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the NF2 mRNA. The next in-frame methionine is located at codon 9. This variant is not present in population databases (gnomAD no frequency). 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: 956856). 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.
GeneDx RCV001751446 SCV001985707 uncertain significance not provided 2019-04-25 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31130284)
Genome-Nilou Lab RCV001229737 SCV002045429 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001229737 SCV004806815 pathogenic Neurofibromatosis, type 2 2024-03-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001229737 SCV004821906 uncertain significance Neurofibromatosis, type 2 2023-06-26 criteria provided, single submitter clinical testing This variant results in the loss of the translation initiator methionine at codon 1 of the NF2 protein. The NF2 gene encodes for a methionine codon 9 before known functional domains (PMID: 25893302) and a second methionine at codon 29. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer 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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