ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1578C>T (p.Ser526=) (rs34012042)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162961 SCV000213449 benign Hereditary cancer-predisposing syndrome 2014-11-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576444 SCV000677536 benign Tuberous sclerosis 2 2017-04-14 criteria provided, single submitter clinical testing
GeneDx RCV000118700 SCV000169112 benign not specified 2012-03-08 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.
Genetic Services Laboratory, University of Chicago RCV000118700 SCV000153115 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000042418 SCV000395583 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586869 SCV000697461 benign not provided 2016-08-23 criteria provided, single submitter clinical testing Variant summary: The TSC2 c.1578C>T (p.Ser526Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 6932/120900 control chromosomes (259 homozygotes) at a frequency of 0.0573366, which is approximately 834 times the estimated maximal expected allele frequency of a pathogenic TSC2 variant (0.0000688), indicating this variant is a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000118700 SCV000205285 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ser526Ser in exon 15 of TSC2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 7.0% (600/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs34012042).
PreventionGenetics RCV000118700 SCV000305152 benign not specified criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042418 SCV000066209 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055219 SCV000083438 not provided Lymphangiomyomatosis no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055357 SCV000083577 not provided Lymphangiomyomatosis; Tuberous sclerosis syndrome no assertion provided curation

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