ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2759T>C (p.Val920Ala)

gnomAD frequency: 0.00001  dbSNP: rs749383639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543543 SCV000644374 benign Tuberous sclerosis 2 2023-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438414 SCV002750312 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-31 criteria provided, single submitter clinical testing The p.V920A variant (also known as c.2759T>C), located in coding exon 24 of the TSC2 gene, results from a T to C substitution at nucleotide position 2759. The valine at codon 920 is replaced by alanine, an amino acid with similar properties. This amino acid position is well 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.

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