ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3098dup (p.Tyr1033Ter) (rs137854015)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484132 SCV000568291 pathogenic not provided 2017-01-25 criteria provided, single submitter clinical testing The c.3098dupA pathogenic variant in the TSC2 gene has been reported multiple times previously in association with TSC (Dabora et al., 2001; Au et al., 2007; TSC2 LOVD). The duplication causes a frameshift starting with codon Tyrosine 1033 and changes this amino acid to a premature Stop codon, denoted p.Tyr1033Ter. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Tuberous sclerosis database (TSC2) RCV000042998 SCV000066796 not provided Tuberous sclerosis syndrome no assertion provided curation

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