ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1717A>C (p.Thr573Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003464716 SCV004206899 uncertain significance Isolated focal cortical dysplasia type II 2023-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003512229 SCV004326728 uncertain significance Tuberous sclerosis 2 2023-09-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is present in population databases (rs748396290, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 573 of the TSC2 protein (p.Thr573Pro).

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