ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro)

gnomAD frequency: 0.00003  dbSNP: rs45517215
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129683 SCV000184482 likely benign Hereditary cancer-predisposing syndrome 2018-09-11 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.
GeneDx RCV001703935 SCV000243561 benign not provided 2019-04-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23514105, 24163242)
Invitae RCV000227547 SCV000285279 benign Tuberous sclerosis 2 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000042858 SCV001274141 uncertain significance 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV000227547 SCV002039625 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000129683 SCV002531039 benign Hereditary cancer-predisposing syndrome 2020-08-06 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV001703935 SCV004133829 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing TSC2: BS2
Color Diagnostics, LLC DBA Color Health RCV000227547 SCV004360878 likely benign Tuberous sclerosis 2 2023-03-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042858 SCV000066654 not provided Tuberous sclerosis syndrome no assertion provided curation

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