ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3542C>T (p.Thr1181Met)

gnomAD frequency: 0.00003  dbSNP: rs373481458
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820253 SCV000960959 benign Tuberous sclerosis 2 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020564 SCV001182060 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-08 criteria provided, single submitter clinical testing The p.T1181M variant (also known as c.3542C>T), located in coding exon 29 of the TSC2 gene, results from a C to T substitution at nucleotide position 3542. The threonine at codon 1181 is replaced by methionine, 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.
Johns Hopkins Genomics, Johns Hopkins University RCV000820253 SCV001438386 uncertain significance Tuberous sclerosis 2 2020-09-14 criteria provided, single submitter clinical testing This TSC2 variant (rs373481458) is rare (<0.1%) in a large population dataset (gnomAD: 5/282382 total alleles; 0.002%; no homozygotes) and has an entry in ClinVar. Two bioinformatics tools queried predict that this substitution would be tolerated, while another predicts it would be damaging. The threonine residue at this position is conserved across most mammalian species assessed. This variant is not predicted to affect normal exon 30 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence, we consider the clinical significance of c.3542C>T to be uncertain at this time.
Genome-Nilou Lab RCV000820253 SCV002040783 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001020564 SCV002533418 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-02 criteria provided, single submitter curation
ITMI RCV000122224 SCV000086445 not provided not specified 2013-09-19 no assertion provided reference population

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