ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1749G>A (p.Gln583=)

gnomAD frequency: 0.00016  dbSNP: rs201911915
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465893 SCV000563473 benign Neurofibromatosis, type 2 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568714 SCV000674126 likely benign Hereditary cancer-predisposing syndrome 2017-08-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV000121646 SCV000714463 likely benign not specified 2018-01-24 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001171722 SCV001158311 likely benign not provided 2021-02-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171722 SCV001334553 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing NF2: BP4
Genome-Nilou Lab RCV000465893 SCV002044927 benign Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000568714 SCV002528187 benign Hereditary cancer-predisposing syndrome 2021-07-18 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000465893 SCV004821923 benign Neurofibromatosis, type 2 2023-12-13 criteria provided, single submitter clinical testing
ITMI RCV000121646 SCV000085844 not provided not specified 2013-09-19 no assertion provided reference population

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