ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.1175del (p.Pro392fs)

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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 RCV003060023 SCV003439316 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 2022-04-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the region of the SQSTM1 protein between codon 391 and 396. Other variants in this region have been observed in individuals with autosomal dominant SQSTM1-related conditions (PMID: 12374763, 14584883, 25664955), which suggests that this may be a clinically significant region of the protein. This variant is also known as 1215delC. This premature translational stop signal has been observed in individual(s) with Paget’s disease of bone (PMID: 14584883). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro392Argfs*3) in the SQSTM1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 49 amino acid(s) of the SQSTM1 protein.

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