ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3326C>T (p.Pro1109Leu)

dbSNP: rs796053474
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189915 SCV000243576 likely benign not specified 2014-03-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000490959 SCV000579586 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-16 criteria provided, single submitter clinical testing The p.P1109L variant (also known as c.3326C>T), located in coding exon 28 of the TSC2 gene, results from a C to T substitution at nucleotide position 3326. The proline at codon 1109 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly 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.
Invitae RCV000546326 SCV000644423 likely benign Tuberous sclerosis 2 2023-12-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000546326 SCV002039735 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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