ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1753G>A (p.Ala585Thr)

gnomAD frequency: 0.00040  dbSNP: rs145446060
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232875 SCV000284551 likely benign Neurofibromatosis, type 2 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013017 SCV001173548 likely benign Hereditary cancer-predisposing syndrome 2019-01-02 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.
Color Diagnostics, LLC DBA Color Health RCV000232875 SCV004357043 likely benign Neurofibromatosis, type 2 2022-03-09 criteria provided, single submitter clinical testing
ITMI RCV000121647 SCV000085845 not provided not specified 2013-09-19 no assertion provided reference population

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