ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4823A>G (p.Tyr1608Cys)

gnomAD frequency: 0.00002  dbSNP: rs759795928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547996 SCV000644572 likely benign Tuberous sclerosis 2 2023-03-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330908 SCV002634017 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-09 criteria provided, single submitter clinical testing The p.Y1608C variant (also known as c.4823A>G), located in coding exon 36 of the TSC2 gene, results from an A to G substitution at nucleotide position 4823. The tyrosine at codon 1608 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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