ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)

gnomAD frequency: 0.00001  dbSNP: rs1049732514
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557509 SCV000628858 uncertain significance Neurofibromatosis, type 2 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 567 of the NF2 protein (p.Asp567Glu). This variant is present in population databases (no rsID available, gnomAD 0.03%). 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: 457904). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV000765631 SCV000896956 uncertain significance Familial meningioma; Neurofibromatosis, type 2; Schwannomatosis 1 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012778 SCV001173278 benign Hereditary cancer-predisposing syndrome 2023-07-07 criteria provided, single submitter clinical testing This alteration is classified as 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.
Genome-Nilou Lab RCV000557509 SCV002044910 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000557509 SCV004821922 likely benign Neurofibromatosis, type 2 2023-09-09 criteria provided, single submitter clinical testing

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