ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys)

gnomAD frequency: 0.00943  dbSNP: rs140226523
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891919 SCV000309864 benign SQSTM1-related condition 2019-10-16 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina RCV000353810 SCV000456919 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.
Invitae RCV001086021 SCV000655615 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 RCV000713548 SCV000844170 benign not provided 2018-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000713548 SCV001896798 benign not provided 2020-08-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32036052, 31859009, 31434890, 24899140, 22084127)

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