ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=)

gnomAD frequency: 0.00052  dbSNP: rs75700262
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652549 SCV000774419 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
Illumina Laboratory Services, Illumina RCV001157198 SCV001318748 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics RCV001288014 SCV001474802 benign not specified 2020-04-20 criteria provided, single submitter clinical testing
GeneDx RCV002275116 SCV002562431 likely benign not provided 2022-02-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV002493049 SCV002799106 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 2022-03-21 criteria provided, single submitter clinical testing

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