ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1244C>T (p.Thr415Ile)

gnomAD frequency: 0.00001  dbSNP: rs746550630
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052119 SCV001216313 likely benign Tuberous sclerosis 1 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393262 SCV002668887 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-26 criteria provided, single submitter clinical testing The p.T415I variant (also known as c.1244C>T), located in coding exon 10 of the TSC1 gene, results from a C to T substitution at nucleotide position 1244. The threonine at codon 415 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. 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.
PreventionGenetics, part of Exact Sciences RCV003973037 SCV004786819 uncertain significance TSC1-related condition 2024-02-05 criteria provided, single submitter clinical testing The TSC1 c.1244C>T variant is predicted to result in the amino acid substitution p.Thr415Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as variant of uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/848377/). 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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