ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1340+8G>T

gnomAD frequency: 0.00029  dbSNP: rs370604189
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226386 SCV000284543 benign Neurofibromatosis, type 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000612521 SCV000730739 likely benign not specified 2017-03-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000226386 SCV000839521 likely benign Neurofibromatosis, type 2 2018-07-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000858741 SCV001153662 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing NF2: BP4, BS1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000858741 SCV002011421 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000226386 SCV002045406 likely benign Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000612521 SCV002103433 benign not specified 2022-02-22 criteria provided, single submitter clinical testing Variant summary: NF2 c.1340+8G>T alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00035 in 225846 control chromosomes, predominantly at a frequency of 0.00053 within the Non-Finnish European subpopulation in the gnomAD database. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 27 fold of the estimated maximal expected allele frequency for a pathogenic variant in NF2 causing Neurofibromatosis Type 2 phenotype (1.9e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant VUS (n=1), benign (n=1) and likely benign (n=4). Based on the evidence outlined above, the variant was classified as benign.
Sema4, Sema4 RCV002258837 SCV002528175 benign Hereditary cancer-predisposing syndrome 2021-05-18 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000226386 SCV004016462 benign Neurofibromatosis, type 2 2023-07-07 criteria provided, single submitter clinical testing

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