ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4715C>T (p.Thr1572Met)

dbSNP: rs1327099376
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219284 SCV001391216 benign Tuberous sclerosis 2 2023-10-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504273 SCV002815760 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-02-16 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153948 SCV003843565 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163686 SCV003862800 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-17 criteria provided, single submitter clinical testing The p.T1572M variant (also known as c.4715C>T), located in coding exon 36 of the TSC2 gene, results from a C to T substitution at nucleotide position 4715. The threonine at codon 1572 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004010725 SCV004818082 uncertain significance Tuberous sclerosis syndrome 2023-07-07 criteria provided, single submitter clinical testing

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