ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) (rs137853993)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489018 SCV000577131 pathogenic not provided 2018-10-16 criteria provided, single submitter clinical testing The c.3693_3696delGTCT pathogenic variant in the TSC2 gene has been reported previously in multiple unrelated individuals with a clinical diagnosis of TSC (Hung et al., 2006; Au et al., 2007; TSC2 LOVD). The deletion causes a frameshift starting with codon Serine 1232, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 92 of the new reading frame, denoted p.Ser1232ThrfsX92. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3693_3696delGTCT variant is not observed in large population cohorts (Lek et al., 2016; 1000Genomes Consortium et al., 2015; Exome Variant Server).
Tuberous sclerosis database (TSC2) RCV000043281 SCV000067083 not provided Tuberous sclerosis syndrome no assertion provided curation

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