ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.946T>C (p.Leu316=)

gnomAD frequency: 0.00030  dbSNP: rs140315612
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002081086 SCV002372574 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 2025-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531342 SCV004735221 likely benign SQSTM1-related disorder 2022-12-22 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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