ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3254C>T (p.Ser1085Leu)

gnomAD frequency: 0.00003  dbSNP: rs45517287
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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 RCV000463902 SCV000544527 benign Tuberous sclerosis 2 2023-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571612 SCV000675615 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-13 criteria provided, single submitter clinical testing The p.S1085L variant (also known as c.3254C>T), located in coding exon 27 of the TSC2 gene, results from a C to T substitution at nucleotide position 3254. The serine at codon 1085 is replaced by leucine, an amino acid with dissimilar 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 RCV000463902 SCV002039724 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735538 SCV005349059 uncertain significance TSC2-related disorder 2024-05-29 no assertion criteria provided clinical testing The TSC2 c.3254C>T variant is predicted to result in the amino acid substitution p.Ser1085Leu. This variant was reported as a variant of uncertain significance in an individual with epilepsy (Atli et al. 2021. PubMed ID: 33528079). This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD and has conflicting interpretations of pathogenicity in ClinVar ranging from benign to uncertain (http://www.ncbi.nlm.nih.gov/clinvar/variation/406094). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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