ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5049G>T (p.Val1683=)

gnomAD frequency: 0.00001  dbSNP: rs1256890176
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685751 SCV000813248 likely benign Tuberous sclerosis 2 2023-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023469 SCV001185353 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-04 criteria provided, single submitter clinical testing The c.5049G>T variant (also known as p.V1683V), located in coding exon 38, results from a G to T substitution at nucleotide position 5049 of the TSC2 gene. This nucleotide substitution does not change the amino acid at codon 1683. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000685751 SCV002040247 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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