ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1658A>G (p.Tyr553Cys)

gnomAD frequency: 0.00001  dbSNP: rs1319281731
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698725 SCV000827406 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259006 SCV002530982 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-02 criteria provided, single submitter curation
Ambry Genetics RCV002259006 SCV002704736 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-06 criteria provided, single submitter clinical testing The p.Y553C variant (also known as c.1658A>G), located in coding exon 15 of the TSC2 gene, results from an A to G substitution at nucleotide position 1658. The tyrosine at codon 553 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not 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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