Submissions for variant NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)

gnomAD frequency: 0.00374  dbSNP: rs146164139

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000553632	SCV000655616	benign	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001155513	SCV001316947	benign	Paget disease of bone 3	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV001619791	SCV001846947	benign	not provided	2019-04-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25796131)
Athena Diagnostics	RCV001579386	SCV001879902	benign	not specified	2021-01-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002497188	SCV002796753	likely benign	Paget disease of bone 3; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; Myopathy, distal, with rimmed vacuoles	2021-10-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001619791	SCV003917021	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	SQSTM1: BP4, BP7, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579386	SCV001807041	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001619791	SCV001931871	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001619791	SCV001968227	likely benign	not provided		no assertion criteria provided	clinical testing