ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4276dup (p.Glu1426fs)

dbSNP: rs886041573
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000327440 SCV000330257 pathogenic not provided 2016-03-03 criteria provided, single submitter clinical testing The c.4276dupG pathogenic variant in the TSC2 gene causes a frameshift starting with codon Glutamic acid 1426, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 98 of the new reading frame, denoted p.Glu1426GlyfsX98. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, we consider it to be pathogenic.

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