ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3448dup (p.Leu1150fs)

dbSNP: rs1555511352
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627463 SCV000748463 pathogenic not provided 2018-03-08 criteria provided, single submitter clinical testing The c.3448dupC pathogenic variant in the TSC2 gene causes a frameshift starting with codon Leucine 1150, changes this amino acid to a Proline residue and creates a premature Stop codon at position 18 of the new reading frame, denoted p.Leu1150ProfsX18. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of TSC in this individual.

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