ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu)

gnomAD frequency: 0.00001  dbSNP: rs370415754
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799042 SCV000938689 likely benign Tuberous sclerosis 2 2024-07-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000799042 SCV001481182 uncertain significance Tuberous sclerosis 2 2020-06-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV000799042 SCV002039698 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440661 SCV002747741 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-03 criteria provided, single submitter clinical testing The p.P961L variant (also known as c.2882C>T), located in coding exon 25 of the TSC2 gene, results from a C to T substitution at nucleotide position 2882. The proline at codon 961 is replaced by leucine, an amino acid with similar properties. This alteration was identified in 1 of 374 patients with clinically suspected TSC undergoing genetic testing within the TSC1 and TSC2 genes (Meng Y et al. J Hum Genet, 2021 Mar;66:227-236). This amino acid position is 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.
GeneDx RCV003117590 SCV003798742 uncertain significance not provided 2022-08-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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