ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1377C>T (p.Gly459=)

gnomAD frequency: 0.00019  dbSNP: rs45517170
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125649 SCV000169110 benign not specified 2013-03-05 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 RCV000163305 SCV000213833 likely benign Hereditary cancer-predisposing syndrome 2018-08-31 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.
Invitae RCV000233975 SCV000285241 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000042409 SCV000395579 likely benign Tuberous sclerosis syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics RCV000233975 SCV000677535 benign Tuberous sclerosis 2 2017-05-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000233975 SCV002041332 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163305 SCV002532779 likely benign Hereditary cancer-predisposing syndrome 2020-12-30 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003221793 SCV003917450 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing TSC2: BP4, BP7, BS1
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000233975 SCV004016211 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042409 SCV000066200 not provided Tuberous sclerosis syndrome no assertion provided curation

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