ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.69A>G (p.Gln23=)

gnomAD frequency: 0.00053  dbSNP: rs117872964
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229245 SCV000289576 benign Hereditary spastic paraplegia 47 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312958 SCV000849230 benign Inborn genetic diseases 2016-04-20 criteria provided, single submitter clinical testing This alteration is classified as 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.
Genome-Nilou Lab RCV000229245 SCV004050710 benign Hereditary spastic paraplegia 47 2023-04-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145024 SCV000192061 likely benign not specified no assertion criteria provided clinical testing

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