ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.1071G>A (p.Thr357=)

gnomAD frequency: 0.00004  dbSNP: rs373289645
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001457229 SCV001661028 likely benign Hereditary spastic paraplegia 47 2024-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002421034 SCV002721350 likely benign Inborn genetic diseases 2018-11-28 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-Nilou Lab RCV001457229 SCV004050666 likely benign Hereditary spastic paraplegia 47 2023-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003405676 SCV004124233 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing AP4B1: BP4, BP7

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