ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4047G>A (p.Ala1349=)

gnomAD frequency: 0.00009  dbSNP: rs45468491
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227920 SCV000285385 benign Tuberous sclerosis 2 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001719788 SCV000515044 benign not provided 2019-06-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16981987)
Ambry Genetics RCV000573845 SCV000675558 likely benign Hereditary cancer-predisposing syndrome 2015-06-23 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.
Genome-Nilou Lab RCV000227920 SCV002039416 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000573845 SCV002533493 likely benign Hereditary cancer-predisposing syndrome 2021-05-21 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000227920 SCV004016175 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001719788 SCV004129852 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing TSC2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003964899 SCV004782595 likely benign TSC2-related condition 2022-04-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Tuberous sclerosis database (TSC2) RCV000043311 SCV000067117 not provided Tuberous sclerosis syndrome no assertion provided curation

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