ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)

gnomAD frequency: 0.00126  dbSNP: rs147810437
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254519 SCV000309858 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000254519 SCV000615506 benign not specified 2017-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000873998 SCV001016106 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 2024-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001157082 SCV001318628 likely 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001579939 SCV001846855 likely benign not provided 2019-10-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31859009, 26836416, 27594680)
CeGaT Center for Human Genetics Tuebingen RCV001579939 SCV002062646 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing SQSTM1: BP4, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579939 SCV001809114 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579939 SCV001966521 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001579939 SCV002034300 likely benign not provided no assertion criteria provided clinical testing

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