ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.225+5G>T

gnomAD frequency: 0.00004  dbSNP: rs778371172
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465873 SCV000544450 likely benign Tuberous sclerosis 2 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014932 SCV001175705 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-14 criteria provided, single submitter clinical testing The c.225+5G>T intronic variant results from a G to T substitution 5 nucleotides after coding exon 2 in the TSC2 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000465873 SCV002041044 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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