ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4207del (p.Asp1403fs) (rs137854273)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478366 SCV000566560 pathogenic not provided 2015-05-13 criteria provided, single submitter clinical testing The c.4207delG deletion in the TSC2 gene has been reported previously multiple times inassociation with tuberous sclerosis complex (TSC) (Niida et al., 2001; TSC2 LOVD). The deletion causes a frameshift starting withcodon Aspartic acid 1403, changes this amino acid to a Threonine residue and creates apremature Stop codon at position 8 of the new reading frame, denoted p.Asp1403ThrfsX8.This variant is predicted to cause loss of normal protein function either through proteintruncation or nonsense-mediated mRNA decay. Therefore, we interpret c.4207delG as a pathogenic variant.
Tuberous sclerosis database (TSC2) RCV000042546 SCV000066339 not provided Tuberous sclerosis syndrome no assertion provided curation

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