ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2742G>A (p.Lys914=) (rs137854877)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657885 SCV000779648 likely pathogenic not provided 2018-05-29 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the TSC2 gene. The c.2742 G>A variant has been previously reported as a de novo variant in an individual with tuberous sclerosis complex (TSC) (Yamamoto et al., 2002). The c.2742 G>A variant is not observed in large population cohorts (Lek et al., 2016). In-silico analyses, including splice predictors and evolutionary conservation, support a deleterious effect. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Tuberous sclerosis database (TSC2) RCV000043370 SCV000067176 not provided Tuberous sclerosis syndrome no assertion provided curation

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