Submissions for variant NM_003900.5(SQSTM1):c.876C>T (p.Asp292=)

gnomAD frequency: 0.62369  dbSNP: rs4935

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251052	SCV000309860	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000347125	SCV000456913	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000600605	SCV000744315	benign	Paget disease of bone 2, early-onset	2015-09-21	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000713546	SCV000844168	benign	not provided	2017-11-17	criteria provided, single submitter	clinical testing
Invitae	RCV001518408	SCV001727091	benign	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000713546	SCV001838756	benign	not provided	2018-08-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808694	SCV002057150	benign	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808696	SCV002057151	benign	Myopathy, distal, with rimmed vacuoles	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808695	SCV002057152	benign	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000347125	SCV002057153	benign	Paget disease of bone 3	2021-07-15	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000600605	SCV000734405	benign	Paget disease of bone 2, early-onset		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000600605	SCV000745670	benign	Paget disease of bone 2, early-onset	2016-04-22	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000251052	SCV001917448	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000251052	SCV001959841	benign	not specified		no assertion criteria provided	clinical testing