ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2122C>A (p.Leu708Met)

dbSNP: rs778040604
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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 RCV000693891 SCV000822313 benign Tuberous sclerosis 2 2023-08-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000993368 SCV001146277 uncertain significance not provided 2019-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000693891 SCV002040681 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422512 SCV002726453 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-03 criteria provided, single submitter clinical testing The p.L708M variant (also known as c.2122C>A), located in coding exon 19 of the TSC2 gene, results from a C to A substitution at nucleotide position 2122. The leucine at codon 708 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Baylor Genetics RCV003465588 SCV004205127 uncertain significance Isolated focal cortical dysplasia type II 2021-06-10 criteria provided, single submitter clinical testing

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