ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.760G>A (p.Glu254Lys)

gnomAD frequency: 0.00008  dbSNP: rs45517126
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190054 SCV000243729 likely benign not specified 2017-02-07 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 RCV000228440 SCV000285474 benign Tuberous sclerosis 2 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571293 SCV000664661 likely benign Hereditary cancer-predisposing syndrome 2018-12-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV001531837 SCV001747135 likely benign not provided 2021-05-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000228440 SCV002041265 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000571293 SCV002534107 likely benign Hereditary cancer-predisposing syndrome 2021-06-24 criteria provided, single submitter curation
Tuberous sclerosis database (TSC2) RCV000055452 SCV000083673 not provided Tuberous sclerosis syndrome no assertion provided curation

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