ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4730del (p.Gly1577fs) (rs397515173)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521061 SCV000621647 pathogenic not provided 2017-10-09 criteria provided, single submitter clinical testing The c.4730delG variant in the TSC2 gene has been reported previously in an individual with a clinical diagnosis of TSC (TSC2 LOVD). The c.4730delG pathogenic variant causes a frameshift starting with codon Glycine 1577, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Gly1577AlafsX8. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, it was not observed in large population cohorts (Lek et al., 2016). Therefore, the presence of c.4730delG is consistent with the diagnosis of TSC in this individual.
Tuberous sclerosis database (TSC2) RCV000055460 SCV000083681 not provided Tuberous sclerosis syndrome no assertion provided curation

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