ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) (rs118203481)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000122200 SCV000153104 likely benign not specified 2014-09-10 criteria provided, single submitter clinical testing
Invitae RCV001080188 SCV000284662 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398057 SCV000478245 likely benign Focal cortical dysplasia type II 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001080188 SCV000478246 likely benign Tuberous sclerosis 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000122200 SCV000527394 benign not specified 2018-01-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000572872 SCV000675346 likely benign Hereditary cancer-predisposing syndrome 2018-04-05 criteria provided, single submitter clinical testing In silico models in agreement (benign);Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Intact protein function observed in appropriate functional assay(s)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034598 SCV000043518 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Tuberous sclerosis database (TSC1) RCV000054847 SCV000065752 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122200 SCV000086419 not provided not specified 2013-09-19 no assertion provided reference population

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