ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4078G>A (p.Glu1360Lys)

gnomAD frequency: 0.00001  dbSNP: rs397514997
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644152 SCV000765842 benign Tuberous sclerosis 2 2023-12-18 criteria provided, single submitter clinical testing
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV000644152 SCV001435084 uncertain significance Tuberous sclerosis 2 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000644152 SCV002039822 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162911 SCV003869492 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-16 criteria provided, single submitter clinical testing The p.E1360K variant (also known as c.4078G>A), located in coding exon 33 of the TSC2 gene, results from a G to A substitution at nucleotide position 4078. The glutamic acid at codon 1360 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction 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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