ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3834G>A (p.Leu1278=)

gnomAD frequency: 0.00001  dbSNP: rs766029525
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000911386 SCV001056451 likely benign Tuberous sclerosis 2 2022-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354744 SCV002619851 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-16 criteria provided, single submitter clinical testing The c.3834G>A variant (also known as p.L1278L), located in coding exon 31 of the TSC2 gene. This variant results from a G to A substitution at nucleotide position 3834. This nucleotide substitution does not change the leucine at codon 1278. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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