ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp)

gnomAD frequency: 0.01529  dbSNP: rs55793208
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246116 SCV000309859 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306263 SCV000456912 likely benign Paget disease of bone 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000547475 SCV000655607 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000246116 SCV001474805 benign not specified 2019-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001683041 SCV001897591 benign not provided 2019-08-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22972638, 25617006, 27275741, 24899140, 23942205, 25681989, 25796131, 15164150, 24042580)
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625251 SCV000745669 likely benign Paget disease of bone 2, early-onset 2016-11-24 no assertion criteria provided clinical testing

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