ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1257+1G>A

dbSNP: rs397515066
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680620 SCV000808052 pathogenic Tuberous sclerosis 2 2018-06-01 criteria provided, single submitter clinical testing
Molecular Biology Laboratory, Fundació Puigvert RCV000680620 SCV001425276 pathogenic Tuberous sclerosis 2 2020-02-01 criteria provided, single submitter research
Genome-Nilou Lab RCV000680620 SCV002040932 pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV000680620 SCV003441705 pathogenic Tuberous sclerosis 2 2023-05-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 65089). Disruption of this splice site has been observed in individual(s) with tuberous sclerosis complex (PMID: 28623545). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 12 of the TSC2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050).
Tuberous sclerosis database (TSC2) RCV000055300 SCV000083520 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055300 SCV000083704 not provided Tuberous sclerosis syndrome no assertion provided curation

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