ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer) (rs137854371)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000317368 SCV000330646 pathogenic not provided 2018-04-16 criteria provided, single submitter clinical testing The c.1760_1761delAT variant in the TSC2 gene has been reported previously in association with tuberous sclerosis complex (TSC) (TSC2 LOVD). 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. The c.1760_1761delAT pathogenic variant in the TSC2 gene causes a frameshift starting with codon Tyrosine 587, changes this amino acid to premature Stop codon, denoted p.Y587X. 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) RCV000042885 SCV000066681 not provided Tuberous sclerosis syndrome no assertion provided curation

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