ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1084C>T (p.Pro362Ser) (rs397514864)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217275 SCV000273367 likely benign Hereditary cancer-predisposing syndrome 2015-01-08 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s);Other data supporting benign classification
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725515 SCV000337442 uncertain significance not provided 2015-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000725515 SCV000524636 likely benign not provided 2021-02-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 22161988)
Invitae RCV000642024 SCV000763677 uncertain significance Tuberous sclerosis 1 2020-02-26 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 362 of the TSC1 protein (p.Pro362Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs397514864, ExAC 0.01%). 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: 64817). Experimental studies have shown that this missense change does not affect TSC1 protein stability, activity, or cellular localization (PMID: 22161988). 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 (TSC1) RCV000055009 SCV000083227 not provided Tuberous sclerosis syndrome no assertion provided curation

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