ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val)

gnomAD frequency: 0.00005  dbSNP: rs397515062
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163902 SCV000214496 benign Hereditary cancer-predisposing syndrome 2020-11-13 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000189923 SCV000243588 likely benign not specified 2017-01-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000476957 SCV000556516 benign Tuberous sclerosis 2 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000476957 SCV002039801 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163902 SCV002533476 likely benign Hereditary cancer-predisposing syndrome 2021-10-01 criteria provided, single submitter curation
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153341 SCV003843379 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477459 SCV004221449 uncertain significance not provided 2013-03-24 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055293 SCV000083513 not provided Tuberous sclerosis syndrome no assertion provided curation

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