ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4909_4911AAG[1] (p.Lys1638del) (rs137854261)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201053 SCV000255906 pathogenic Tuberous sclerosis 2 2014-11-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517321 SCV000615915 pathogenic not provided 2014-11-20 criteria provided, single submitter clinical testing
Invitae RCV000201053 SCV000765953 pathogenic Tuberous sclerosis 2 2019-01-02 criteria provided, single submitter clinical testing This variant, c.4912_4914delAAG, results in the deletion of 1 amino acid of the TSC2 protein (p.Lys1638del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in many individuals affected with tuberous sclerosis complex in the literature and in the Leiden Open-source Variation Database (PMID: 17304050, 20165957, 21520333, 22867869). This variant is also known as c.4909_4911delAAG in the literature. ClinVar contains an entry for this variant (Variation ID: 49893). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000043159 SCV000066507 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000043159 SCV000066958 not provided Tuberous sclerosis syndrome no assertion provided curation

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