ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.114+4A>G

dbSNP: rs1207246677
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213453 SCV001385084 uncertain significance Neurofibromatosis, type 2 2023-07-08 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the NF2 gene. It does not directly change the encoded amino acid sequence of the NF2 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 943289). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in unknown protein product impact (Invitae). 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 RCV002451464 SCV002613179 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-31 criteria provided, single submitter clinical testing The c.114+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 1 in the NF2 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003129735 SCV003805810 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003462718 SCV004199070 uncertain significance Familial meningioma 2023-05-05 criteria provided, single submitter clinical testing

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