ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4489C>T (p.Pro1497Ser) (rs45517344)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230160 SCV001402632 uncertain significance Tuberous sclerosis 2 2019-10-29 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1497 of the TSC2 protein (p.Pro1497Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 65206). This variant has been reported to affect TSC2 protein function (PMID: 21309039). 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. 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.
Tuberous sclerosis database (TSC2) RCV000055424 SCV000083645 not provided Tuberous sclerosis syndrome no assertion provided curation

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