ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) (rs150195368)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000122202 SCV000205284 uncertain significance not specified 2014-04-10 criteria provided, single submitter clinical testing The Ala357Val variant in TSC2 has not been previously reported in individuals wi th pulmonary disease, but has been identified in 0.035% (3/8600) of European Ame rican chromosomes and 0.023% (1/4396) of African American chromosomes by the NHL BI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs10519536 8). Functional studies indicate that this variant may not impact protein functio n (Hoogevenn-Westerveld 2011). However, this in vitro assay may not accurately r epresent biological function. In addition, computational prediction tools and c onservation analysis suggest that the Ala357Val variant may not impact the prote in, though this information is not predictive enough to rule out pathogenicity. In summary, additional information is needed to fully assess the clinical signif icance of the Ala357Val variant
Ambry Genetics RCV000163628 SCV000214196 benign Hereditary cancer-predisposing syndrome 2015-11-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Other data supporting benign classification
Invitae RCV000230505 SCV000285220 benign Tuberous sclerosis 2 2018-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000122202 SCV000515014 likely benign not specified 2018-03-07 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000122202 SCV000702129 likely benign not specified 2016-10-31 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000230505 SCV000845562 uncertain significance Tuberous sclerosis 2 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714826 SCV000845563 uncertain significance Focal cortical dysplasia type II 2018-08-07 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034641 SCV000043524 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Tuberous sclerosis database (TSC2) RCV000055595 SCV000083820 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122202 SCV000086422 not provided not specified 2013-09-19 no assertion provided reference population

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