ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2281T>C (p.Tyr761His)

gnomAD frequency: 0.00001  dbSNP: rs776386313
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000988275 SCV000641560 benign Tuberous sclerosis 1 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567937 SCV000675431 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-24 criteria provided, single submitter clinical testing The p.Y761H variant (also known as c.2281T>C), located in coding exon 16 of the TSC1 gene, results from a T to C substitution at nucleotide position 2281. The tyrosine at codon 761 is replaced by histidine, 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.
Mendelics RCV000988275 SCV001137932 uncertain significance Tuberous sclerosis 1 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000988275 SCV002040055 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing

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