ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3738dup (p.Thr1247fs)

dbSNP: rs796053506
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190063 SCV000243738 pathogenic not provided 2015-01-02 criteria provided, single submitter clinical testing c.3738dupC: p.Thr1247HisfsX75 (T1247HfsX75) in exon 31 of the TSC2 gene (NM_000548.3). The normal sequence with the base that is duplicated in braces is: GGGA{C}ACAG. The c.3738dupC mutation in the TSC2 gene causes a frameshift starting with codon Threonine 1247, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 75 of the new reading frame, denoted p.T1247HfsX75. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Additionally, other frameshift mutations in nearby residues have been reported in association with tuberous sclerosis, supporting the functional importance of this region of the protein. The c.3738dupC mutation has not been previously reported to our knowledge. The variant is found in EPILEPSY panel(s).

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