ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2071del (p.Arg691fs) (rs137854071)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190058 SCV000243733 pathogenic not provided 2018-03-05 criteria provided, single submitter clinical testing c.2071delC: p.Arg691AlafsX7 in exon 19 in the TSC2 gene (NM_000548.3). The normal sequence with the base(s) that are deleted in braces is: CTTC{C}GCGT. The c.2071delC pathogenic variant in the TSC2 gene has been reported previously in association with tuberous sclerosis complex (Au et al., 1998; Ali et al., 2005; TSC2 LOVD). The deletion causes a frameshift starting with codon Arginine 691, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Arg691AlafsX7. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.2071delCvariant is not observed in large population cohorts (Lek et al., 2016). Therefore, the presence of c.2071delC is consistent with the diagnosis of tuberous sclerosis complex in this individual.
Tuberous sclerosis database (TSC2) RCV000042979 SCV000066776 not provided Tuberous sclerosis syndrome no assertion provided curation

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