ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1443+5G>C

dbSNP: rs1057521562
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579379 SCV000681119 likely pathogenic not provided 2025-01-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 29476190, 33391346)
Labcorp Genetics (formerly Invitae), Labcorp RCV000644207 SCV000765898 pathogenic Tuberous sclerosis 2 2024-02-08 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the TSC2 gene. It does not directly change the encoded amino acid sequence of the TSC2 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 21520333, 29101226, 29476190, 33391346). ClinVar contains an entry for this variant (Variation ID: 489133). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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