ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.1185dup (p.Glu396Ter)

dbSNP: rs1254158201
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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 RCV001036644 SCV001200019 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 2024-06-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu396*) in the SQSTM1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acid(s) of the SQSTM1 protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individuals with Paget disease of bone and frontotemporal lobar degeneration or amyotrophic lateral sclerosis (PMID: 12374763, 24899140, 25664955, 28642336). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 835699). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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