ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.571G>T (p.Gly191Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005216396 SCV005852857 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 2024-02-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly191*) in the SQSTM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SQSTM1 are known to be pathogenic (PMID: 27545679, 29959261). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SQSTM1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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