ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3158C>T (p.Ala1053Val)

gnomAD frequency: 0.00003  dbSNP: rs760214724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470486 SCV000544488 likely benign Tuberous sclerosis 2 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323694 SCV002610156 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-27 criteria provided, single submitter clinical testing The p.A1053V variant (also known as c.3158C>T), located in coding exon 27 of the TSC2 gene, results from a C to T substitution at nucleotide position 3158. The alanine at codon 1053 is replaced by valine, 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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