ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.482-4C>T

gnomAD frequency: 0.00001  dbSNP: rs780938957
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945068 SCV001091054 likely benign Tuberous sclerosis 2 2024-05-15 criteria provided, single submitter clinical testing
GeneDx RCV001655648 SCV001870990 likely benign not provided 2020-09-15 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000945068 SCV002041228 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000945068 SCV005407720 benign Tuberous sclerosis 2 2024-09-09 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Ambry Genetics RCV004950087 SCV005523410 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-19 criteria provided, single submitter clinical testing The c.482-4C>T intronic variant results from a C to T substitution 4 nucleotides upstream from coding exon 5 in the TSC2 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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