ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4316del (p.Gly1439fs) (rs137853988)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485831 SCV000566402 pathogenic not provided 2015-04-27 criteria provided, single submitter clinical testing The c.4316delG variant in the TSC2 gene has been reported previously in association with tuberoussclerosis (TSC2 LOVD). The deletion causes a frameshift starting with codon Glycine 1439, changes thisamino acid to a Alanine residue and creates a premature Stop codon at position 37 of thenew reading frame, denoted p.Gly1439AlafsX37. This deletion is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret this variant as pathogenic.
Tuberous sclerosis database (TSC2) RCV000055494 SCV000083716 not provided Tuberous sclerosis syndrome no assertion provided curation

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