ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4878_4881del (p.Thr1627fs)

dbSNP: rs137854050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498406 SCV000589553 pathogenic not provided 2017-06-15 criteria provided, single submitter clinical testing The c.4878_4881delCACC pathogenic variant in the TSC2 gene has been reported previously in an individual with a clinical diagnosis of TSC (Au et al., 2007). The c.4878_4881delCACC pathogenic variant in the TSC2 gene causes a frameshift starting with codon Threonine 1627, changes this amino acid to a Arginine residue and creates a premature Stop codon at position 44 of the new reading frame, denoted p.T1627RfsX44. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the presence of c.4878_4881delCACC is consistent with the diagnosis of tuberous sclerosis complex in this individual.
Tuberous sclerosis database (TSC2) RCV000055109 SCV000067039 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055109 SCV000083327 not provided Tuberous sclerosis syndrome no assertion provided curation

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