ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.803A>G (p.His268Arg)

gnomAD frequency: 0.00037  dbSNP: rs201047107
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000614944 SCV000192062 likely benign not specified 2018-11-19 criteria provided, single submitter clinical testing
GeneDx RCV001705941 SCV000725408 likely benign not provided 2020-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000145025 SCV000771103 benign Hereditary spastic paraplegia 47 2024-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312959 SCV000847850 likely benign Inborn genetic diseases 2019-10-18 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847777 SCV002104917 likely benign Hereditary spastic paraplegia 2021-03-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000145025 SCV004050677 likely benign Hereditary spastic paraplegia 47 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001705941 SCV005259303 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003945161 SCV004761722 likely benign AP4B1-related disorder 2020-10-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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