ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro)

dbSNP: rs137854345
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413741 SCV000491424 likely pathogenic not provided 2023-01-23 criteria provided, single submitter clinical testing Identified in a patient with tuberous sclerosis complex in published literature (Ogrek et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23514105, 32461669, 27493206, 18466115)
Labcorp Genetics (formerly Invitae), Labcorp RCV001065226 SCV001230176 likely pathogenic Tuberous sclerosis 2 2019-03-07 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 362 of the TSC2 protein (p.Leu362Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant has been observed to be de novo in an individual affected with tuberous sclerosis complex (Invitae). ClinVar contains an entry for this variant (Variation ID: 49140). 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"). 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.
Tuberous sclerosis database (TSC2) RCV000042395 SCV000066185 not provided Tuberous sclerosis syndrome no assertion provided curation

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