ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.-30+1G>C

dbSNP: rs587778004
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190049 SCV000243723 uncertain significance not provided 2021-06-29 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 29655203)
Fulgent Genetics, Fulgent Genetics RCV002500581 SCV002791027 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-02-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV003468875 SCV004206829 uncertain significance Isolated focal cortical dysplasia type II 2023-09-26 criteria provided, single submitter clinical testing
deCODE genetics, Amgen RCV003485553 SCV004022274 likely pathogenic Tuberous sclerosis 2 2023-07-21 no assertion criteria provided research The variant NM_000548.5:c.-30+1G>C (chr16:2048066) in TSC2 was detected in 2 heterozygotes out of 58K WGS Icelanders (MAF= 0,002%). This variant has been reported in ClinVar previously as pathogenic and as a variant of uncertain significance. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic.

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