ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.272C>T (p.Ser91Leu)

dbSNP: rs118203361
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799995 SCV000939690 likely benign Tuberous sclerosis 1 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440669 SCV002741494 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-14 criteria provided, single submitter clinical testing The p.S91L variant (also known as c.272C>T), located in coding exon 3 of the TSC1 gene, results from a C to T substitution at nucleotide position 272. The serine at codon 91 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is not 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.
Fulgent Genetics, Fulgent Genetics RCV002487685 SCV002790061 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2021-11-11 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000799995 SCV005689343 uncertain significance Tuberous sclerosis 1 2024-07-25 criteria provided, single submitter clinical testing The TSC1 c.272C>T (p.Ser91Leu) missense change has a maximum subpopulation frequency of 0.00088% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but this prediction has not been confirmed by functional studies. This variant has not been reported in individuals with tuberous sclerosis complex. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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