ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter)

dbSNP: rs1845604585
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001199385 SCV004047760 likely pathogenic Tuberous sclerosis 1 criteria provided, single submitter clinical testing The stop gained variant c.1996A>T (p.Lys666Ter) in TSC1, has been previously reported in ClinVar database as Pathogenic (RCV001199385) by a single submitter with a status of no assertion criteria provided. The c.1996A>T variant is not reported in population databases like gnomAD Exomes and 1000 Genomes. The nucleotide change c.1996A>T in TSC1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV001199385 SCV001370498 pathogenic Tuberous sclerosis 1 2020-06-09 no assertion criteria provided clinical testing

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