ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4490C>T (p.Pro1497Leu)

dbSNP: rs45497997
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001949222 SCV002240734 pathogenic Tuberous sclerosis 2 2020-10-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Pro1497 amino acid residue in TSC2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10205261, 21309039). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 28643795, 24271014, 31655562, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 1497 of the TSC2 protein (p.Pro1497Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.

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