ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs)

dbSNP: rs137854141
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201116 SCV000255907 pathogenic Tuberous sclerosis 2 2014-06-23 criteria provided, single submitter clinical testing
Invitae RCV000201116 SCV000644580 pathogenic Tuberous sclerosis 2 2017-05-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe1645Cysfs*7) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. This variant has been reported to segregate with tuberous sclerosis in 2 families (PMID: 9452050). It has also been reported as de novo in individuals affected with tuberous sclerosis and Wilms tumor (PMID: 21567926, 9452050), but paternity was not confirmed in these individuals. This variant is also known as 4882delTT in the literature. ClinVar contains an entry for this variant (Variation ID: 49981). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050).
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000201116 SCV000808051 pathogenic Tuberous sclerosis 2 2018-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000201116 SCV002041007 pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043248 SCV000067049 not provided Tuberous sclerosis syndrome no assertion provided curation

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