ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.384C>T (p.Cys128=)

gnomAD frequency: 0.00001  dbSNP: rs768088721
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001473303 SCV001677455 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 2024-10-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426129 SCV004158152 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing SQSTM1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004533822 SCV004712946 likely benign SQSTM1-related disorder 2023-11-27 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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