ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1976C>T (p.Ala659Val) (rs118203609)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469663 SCV000552256 uncertain significance Tuberous sclerosis 1 2018-05-15 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 659 of the TSC1 protein (p.Ala659Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs118203609, ExAC 0.02%). This variant has been reported in an individual affected with tuberous sclerosis in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 48862). An experimental study has shown that this missense change does not affect TSC1 protein expression or sub-cellular localization in vitro, suggesting a neutral effect on protein function (PMID: 19747374). 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.
Ambry Genetics RCV000570911 SCV000675403 likely benign Hereditary cancer-predisposing syndrome 2017-07-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Intact protein function observed in appropriate functional assay(s)
Tuberous sclerosis database (TSC1) RCV000042113 SCV000065898 not provided Tuberous sclerosis syndrome no assertion provided curation

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