ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2090dup (p.Leu697fs) (rs137854189)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497886 SCV000589552 pathogenic not provided 2017-06-20 criteria provided, single submitter clinical testing The c.2090dupT pathogenic variant in the TSC2 gene has been reported previously in an individual with a clinical diagnosis of TSC (Rendtorff et al., 2005). The duplication causes a frameshift starting with codon Leucine 697, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Leu697PhefsX6. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.2090dupT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, the presence of c.2090dupT is consistent with a diagnosis of TSC in this individual.
Tuberous sclerosis database (TSC2) RCV000042912 SCV000066708 not provided Tuberous sclerosis syndrome no assertion provided curation

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