ClinVar Miner

Submissions for variant NC_000005.9:g.(?_179260012)_(179260802_?)del

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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 RCV001980096 SCV002227073 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 2022-08-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts a region of the SQSTM1 protein in which other variant(s) (p.Ala381Val) have been observed in individuals with SQSTM1-related conditions (PMID: 17129171, 24042580). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with SQSTM1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 6-7 of the SQSTM1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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