ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5305C>T (p.His1769Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1555441265
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563385 SCV000675664 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-29 criteria provided, single submitter clinical testing The p.H1769Y variant (also known as c.5305C>T), located in coding exon 41 of the TSC2 gene, results from a C to T substitution at nucleotide position 5305. The histidine at codon 1769 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000644196 SCV000765886 benign Tuberous sclerosis 2 2024-01-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000644196 SCV002040279 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000644196 SCV003821627 uncertain significance Tuberous sclerosis 2 2022-03-26 criteria provided, single submitter clinical testing

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