ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1562C>T (p.Ser521Leu)

gnomAD frequency: 0.00001  dbSNP: rs759379027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012194 SCV001172617 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-10 criteria provided, single submitter clinical testing The p.S521L variant (also known as c.1562C>T), located in coding exon 13 of the TSC1 gene, results from a C to T substitution at nucleotide position 1562. The serine at codon 521 is replaced by leucine, an amino acid with dissimilar 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.
Invitae RCV001219201 SCV001391126 likely benign Tuberous sclerosis 1 2023-12-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001219201 SCV002039231 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing

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