ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4099_4100insT (p.Gly1367fs)

dbSNP: rs1064793573
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482478 SCV000566484 pathogenic not provided 2015-05-06 criteria provided, single submitter clinical testing The c.4099_4100insT insertion in the TSC2 gene causes a frameshiftstarting with codon Gylcine 136,changes this amino acid to a Valine residue and creates a premature Stop codon at position 47 of the newreading frame, denoted p.Gly1367ValfsX47. This insertion is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. Although this variant has notbeen previously reported to our knowledge, other frameshift variants have been reported in the TSC2 genein association with TSC (TSC2 LOVD; Stenson et al., 2014). Therefore, we consider the c.4099_4100insT variant to be pathogenic.

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