ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3202A>C (p.Thr1068Pro)

dbSNP: rs1060500947
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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 RCV000467462 SCV000544453 likely pathogenic Tuberous sclerosis 2 2020-05-22 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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: 21520333, Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 406049). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with proline at codon 1068 of the TSC2 protein (p.Thr1068Pro). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and proline.

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