ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1563dup (p.His522fs) (rs137854023)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484376 SCV000566539 pathogenic not provided 2015-05-11 criteria provided, single submitter clinical testing The c.1563dupA duplication in the TSC2 gene has been reported previously in association with tuberoussclerosis complex (TSC) (TSC2 LOVD). The duplicationcauses a frameshift starting with codon Histidine 522, changes this amino acid to a Threonineresidue andcreates a premature Stop codon at position 67 of the new reading frame, denoted p.His522ThrfsX67. Thisduplication is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We therefore consider this variant to be pathogenic.
Tuberous sclerosis database (TSC2) RCV000043401 SCV000067207 not provided Tuberous sclerosis syndrome no assertion provided curation

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