ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3835T>C (p.Tyr1279His)

dbSNP: rs1449727037
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021252 SCV001182844 uncertain significance Hereditary cancer-predisposing syndrome 2020-07-24 criteria provided, single submitter clinical testing The p.Y1279H variant (also known as c.3835T>C), located in coding exon 31 of the TSC2 gene, results from a T to C substitution at nucleotide position 3835. The tyrosine at codon 1279 is replaced by histidine, an amino acid with similar 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.
Invitae RCV001046033 SCV001209915 benign Tuberous sclerosis 2 2023-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001046033 SCV002040792 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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