ClinVar Miner

Submissions for variant NM_001039569.2(AP1S3):c.64A>G (p.Thr22Ala)

gnomAD frequency: 0.00120  dbSNP: rs149183052
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733531 SCV001984073 likely benign Psoriasis 15, pustular, susceptibility to 2019-12-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438869 SCV004151506 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing AP1S3: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003438869 SCV005258948 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003931311 SCV004739945 likely benign AP1S3-related disorder 2020-06-25 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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