ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1342C>G (p.Leu448Val)

gnomAD frequency: 0.00001  dbSNP: rs1413875392
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719001 SCV000724773 likely benign not provided 2020-04-28 criteria provided, single submitter clinical testing
Invitae RCV000644119 SCV000765809 likely benign Tuberous sclerosis 2 2023-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010952 SCV001171218 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-22 criteria provided, single submitter clinical testing The p.L448V variant (also known as c.1342C>G), located in coding exon 12 of the TSC2 gene, results from a C to G substitution at nucleotide position 1342. The leucine at codon 448 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000644119 SCV002039535 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001010952 SCV002532774 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-30 criteria provided, single submitter curation

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