ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1639G>A (p.Glu547Lys)

gnomAD frequency: 0.00019  dbSNP: rs199669486
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547087 SCV000628857 likely benign Neurofibromatosis, type 2 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573923 SCV000674144 likely benign Hereditary cancer-predisposing syndrome 2020-09-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237895 SCV002011399 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000547087 SCV002045416 likely benign Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing

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