ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3039T>C (p.Asp1013=)

gnomAD frequency: 0.00002  dbSNP: rs149098424
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543203 SCV000644400 likely benign Tuberous sclerosis 2 2024-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000612484 SCV000728055 likely benign not specified 2018-03-05 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 RCV001018244 SCV001179455 likely benign Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Genome-Nilou Lab RCV000543203 SCV002039281 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392390 SCV004133841 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing TSC2: BP4, BP7
All of Us Research Program, National Institutes of Health RCV003999284 SCV004818724 likely benign Tuberous sclerosis syndrome 2024-05-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003392390 SCV005216990 likely benign not provided criteria provided, single submitter not provided

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