ClinVar Miner

Submissions for variant NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp)

gnomAD frequency: 0.00725  dbSNP: rs138292988
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454575 SCV000538287 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF 1.2%. Limited evidence for gene-disease association.
CeGaT Center for Human Genetics Tuebingen RCV002262754 SCV002544214 benign not provided 2024-02-01 criteria provided, single submitter clinical testing AP1S3: BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV000148042 SCV002796576 likely benign Psoriasis 15, pustular, susceptibility to 2022-04-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927448 SCV004742108 likely benign AP1S3-related condition 2020-11-02 criteria provided, single submitter 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).
OMIM RCV000148042 SCV000195548 risk factor Psoriasis 15, pustular, susceptibility to 2014-05-01 no assertion criteria provided literature only

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