ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1730C>T (p.Thr577Ile)

gnomAD frequency: 0.00004  dbSNP: rs770895919
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545413 SCV000644274 benign Tuberous sclerosis 2 2023-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012884 SCV001173398 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-01 criteria provided, single submitter clinical testing The p.T577I variant (also known as c.1730C>T), located in coding exon 16 of the TSC2 gene, results from a C to T substitution at nucleotide position 1730. The threonine at codon 577 is replaced by isoleucine, 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.
Genome-Nilou Lab RCV000545413 SCV002040633 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV004722897 SCV005332898 uncertain significance not provided 2023-07-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Myriad Genetics, Inc. RCV000545413 SCV005406104 likely benign Tuberous sclerosis 2 2024-08-09 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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