ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.737+3A>G (rs118203439)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189840 SCV000243493 likely pathogenic not provided 2016-12-22 criteria provided, single submitter clinical testing A c.737+3 A>G variant that is likely pathogenic has been identified in the TSC1 gene. The c.737+3A>G variant was reported as a novel polymorphism as it was observed in affected individuals andnormal controls; no additional information was provided by the authors (Jones et al., 1997; TSC1LOVD). However, the c.737+3 A>G variant is not observed in large population cohorts (Lek et al.,2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Additionally, several in-silicosplice prediction models predict that c.737+3 A>G destroys the natural splice donor site in intron 8. Inthe absence of RNA/functional studies, the actual effect of this sequence change isunknown. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannotbe excluded.
Ambry Genetics RCV000561720 SCV000675447 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Center for Human Genetics, Inc RCV000660331 SCV000782380 uncertain significance Tuberous sclerosis 1 2016-11-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042347 SCV000066136 not provided Tuberous sclerosis syndrome no assertion provided curation

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