ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3653del (p.Pro1218fs)

dbSNP: rs1057518201
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414407 SCV000491645 pathogenic not provided 2016-10-31 criteria provided, single submitter clinical testing The c.3653delC pathogenic variant in the TSC2 gene causes a frameshift starting with codon Proline 1218, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 107 of the new reading frame, denoted p.Pro1218LeufsX107. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, 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.

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