ClinVar Miner

Submissions for variant NM_001039569.2(AP1S3):c.11T>G (p.Phe4Cys)

gnomAD frequency: 0.00898  dbSNP: rs116107386
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002262755 SCV002544215 benign not provided 2024-11-01 criteria provided, single submitter clinical testing AP1S3: PP3, BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV000148043 SCV005650073 likely benign Psoriasis 15, pustular, susceptibility to 2024-05-10 criteria provided, single submitter clinical testing
OMIM RCV000148043 SCV000195549 risk factor Psoriasis 15, pustular, susceptibility to 2014-05-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003982906 SCV004799719 likely benign AP1S3-related disorder 2022-07-11 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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