ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.1165+1G>A (rs796051870)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652541 SCV000774411 pathogenic Amyotrophic lateral sclerosis and/or frontotemporal dementia 1; Paget disease of bone 2, early-onset 2017-08-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the SQSTM1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Paget’s disease of bone (PDB) (PMID: 12374763, 23417734, 17129171), distal myopathy (PMID: 26208961), scapuloperoneal myopathy with rimmed vacuoles (PMID: 26627873) and amyotrophic lateral sclerosis (PMID: 23417734). This variant has also been reported to segregate with autosomal dominant distal myopathy in a single family (PMID: 26208961). ClinVar contains an entry for this variant (Variation ID: 8110). This variant is also known as A390X in the literature. Experimental studies have shown that this variant causes alternative splicing that results in SQSTM1 proteins which lack C-terminal protein domains (PMID: 26208961). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000008578 SCV000028786 pathogenic Paget disease of bone, familial 2002-10-15 no assertion criteria provided literature only
OMIM RCV000258911 SCV000328654 pathogenic GNE myopathy 2002-10-15 no assertion criteria provided literature only

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