ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.281C>T (p.Pro94Leu)

gnomAD frequency: 0.00001  dbSNP: rs200045926
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471856 SCV000544442 likely benign Tuberous sclerosis 2 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV001797088 SCV002038796 uncertain significance not provided 2021-06-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18466115, 27535533, 28191889)
Ambry Genetics RCV002436401 SCV002749505 likely benign Hereditary cancer-predisposing syndrome 2023-03-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003899905 SCV004709868 uncertain significance TSC2-related condition 2023-12-01 criteria provided, single submitter clinical testing The TSC2 c.281C>T variant is predicted to result in the amino acid substitution p.Pro94Leu. This variant was identified in a large cohort study looking at neurodevelopmental disorder risk genes (Stessman et al. 2017. PubMed ID: 28191889). This variant has not been reported in a large population database, indicating this variant is rare. 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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