ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1231C>A (p.Leu411Ile) (rs397514840)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761088 SCV000891003 uncertain significance Craniopharyngioma 2016-11-15 criteria provided, single submitter clinical testing
Invitae RCV000474632 SCV000552325 uncertain significance Tuberous sclerosis 1 2016-08-19 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 411 of the TSC1 protein (p.Leu411Ile). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is present in population databases (rs397514840, ExAC 0.01%). This variant has been reported in an individual affected with tuberous sclerosis complex (PMID: 22161988). ClinVar contains an entry for this variant (Variation ID: 64790). An experimental study has shown that this missense change does not significantly affect TSC1 protein activity or stability in vitro (PMID: 22161988). In summary, this variant is a rare missense change that does not affect protein function in vitro. It has been reported in both the population and an affected individual, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Tuberous sclerosis database (TSC1) RCV000054977 SCV000083195 not provided Tuberous sclerosis syndrome no assertion provided curation

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