ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs) (rs137854141)

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Total submissions: 4
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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 2017-06-06 criteria provided, single submitter clinical testing 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 is not present in population databases (ExAC no frequency). 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). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
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
Tuberous sclerosis database (TSC2) RCV000043248 SCV000067049 not provided Tuberous sclerosis syndrome no assertion provided curation

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