ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1875_1876del (p.Leu626fs) (rs397515073)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657460 SCV000779195 pathogenic not provided 2018-02-01 criteria provided, single submitter clinical testing The c.1875_1876delAC pathogenic variant in the TSC2 gene causes a frameshift starting with codonLeucine 626, changes this amino acid to an Alanine residue and creates a premature Stop codon atposition 30 of the new reading frame, denoted p.Leu626AlafsX30. This pathogenic variant ispredicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1875_1876delAC variant is not observed in large population cohorts (Lek et al., 2016).
Tuberous sclerosis database (TSC2) RCV000055309 SCV000083529 not provided Tuberous sclerosis syndrome no assertion provided curation

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