ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) (rs1051771)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163255 SCV000213782 benign Hereditary cancer-predisposing syndrome 2014-11-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118715 SCV000153130 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 RCV000043113 SCV000395687 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589943 SCV000697480 benign not provided 2016-08-23 criteria provided, single submitter clinical testing Variant summary: The TSC2 c.5397G>C (p.Ser1799Ser) 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 8759/114222 control chromosomes (440 homozygotes) at a frequency of 0.076684, which is approximately 1115 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 RCV000118715 SCV000200863 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ser1799Ser in exon 42 of TSC2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 9.9% (848/8596) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1051771).
PreventionGenetics RCV000118715 SCV000305253 benign not specified criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043113 SCV000066912 not provided Tuberous sclerosis syndrome no assertion provided curation

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