ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.21del (p.Asp8fs) (rs137854019)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008915 SCV001168721 pathogenic not provided 2019-03-08 criteria provided, single submitter clinical testing A pathogenic variant has been identified in the TSC2 gene.The c.21delA pathogenic variant in the TSC2 gene causes a frameshift starting with codon Aspartate 8, changes this amino acid to an Isoleucine residue and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Asp8IlefsX4. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.21delA variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of TSC in this individual.
Tuberous sclerosis database (TSC2) RCV000042860 SCV000066656 not provided Tuberous sclerosis syndrome no assertion provided curation

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