ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5122del (p.Leu1708fs) (rs137854336)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008090 SCV001167835 likely pathogenic not provided 2018-08-27 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the TSC2 gene. The c.5122delC variant has been reported previously in a single individual with tuberous sclerosis; however, parental testing was not performed (Au et al., 2007). The c.5122delC variant causes a frameshift starting with codon Leucine 1708, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 118 of the new reading frame, denoted p.Leu1708CysfsX118. This likely pathogenic variant is predicted to alter the protein, as the last 100 amino acids of the TSC2 protein are changed to 118 incorrect amino acids. The c.5122delC variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Tuberous sclerosis database (TSC2) RCV000042609 SCV000066403 not provided Tuberous sclerosis syndrome no assertion provided curation

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