ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2956G>A (p.Val986Met)

gnomAD frequency: 0.00001  dbSNP: rs765489754
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797775 SCV000937354 benign Tuberous sclerosis 2 2024-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166162 SCV003911457 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-18 criteria provided, single submitter clinical testing The p.V986M variant (also known as c.2956G>A), located in coding exon 25 of the TSC2 gene, results from a G to A substitution at nucleotide position 2956. The valine at codon 986 is replaced by methionine, an amino acid with highly 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Baylor Genetics RCV003467365 SCV004205074 uncertain significance Isolated focal cortical dysplasia type II 2023-06-06 criteria provided, single submitter clinical testing

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