ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.300G>A (p.Ala100=)

gnomAD frequency: 0.00015  dbSNP: rs45517100
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163268 SCV000213796 likely benign Hereditary cancer-predisposing syndrome 2014-07-15 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.
Eurofins Ntd Llc (ga) RCV000724097 SCV000230124 uncertain significance not provided 2014-08-27 criteria provided, single submitter clinical testing
Invitae RCV001082842 SCV000285324 benign Tuberous sclerosis 2 2024-01-29 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000251650 SCV000305192 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000043438 SCV000395558 likely benign Tuberous sclerosis syndrome 2019-02-07 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000724097 SCV000970448 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724097 SCV001156190 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing TSC2: BP4, BP7
Genome-Nilou Lab RCV001082842 SCV002041052 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163268 SCV002533360 likely benign Hereditary cancer-predisposing syndrome 2021-06-03 criteria provided, single submitter curation
Tuberous sclerosis database (TSC2) RCV000043438 SCV000067245 not provided Tuberous sclerosis syndrome no assertion provided curation

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