ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4272C>T (p.Asp1424=)

gnomAD frequency: 0.00032  dbSNP: rs371541319
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125685 SCV000169148 benign not specified 2014-02-10 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.
Ambry Genetics RCV000163294 SCV000213822 likely benign Hereditary cancer-predisposing syndrome 2014-10-21 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.
Invitae RCV000232233 SCV000285392 benign Tuberous sclerosis 2 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171697 SCV001334518 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing TSC2: BP4, BP7
Genome-Nilou Lab RCV000232233 SCV002039444 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163294 SCV002533521 benign Hereditary cancer-predisposing syndrome 2021-02-01 criteria provided, single submitter curation

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