ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2042-5A>T

dbSNP: rs118203627
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001419950 SCV001622218 likely benign Tuberous sclerosis 1 2022-07-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255662 SCV002530954 likely benign Hereditary cancer-predisposing syndrome 2020-08-25 criteria provided, single submitter curation
Ambry Genetics RCV002255662 SCV002722695 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-27 criteria provided, single submitter clinical testing The c.2042-5A>T intronic variant results from an A to T substitution 5 nucleotides upstream from coding exon 15 in the TSC1 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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