ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.-5G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003176464 SCV003858353 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-15 criteria provided, single submitter clinical testing The c.-5G>T variant is located in the 5' untranslated region (5’ UTR) of the NF2 gene. This variant results from a G to T substitution 5 bases upstream from the first translated codon. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004009628 SCV004825303 uncertain significance Neurofibromatosis, type 2 2023-08-15 criteria provided, single submitter clinical testing This variant causes a G to T nucleotide substitution at the -5 position in the 5' untranslated region in the NF2 gene. This variant is located in a poorly conserved position in the Kozak consensus sequence (PMID: 3313277). 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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