ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4323dup (p.Glu1442fs)

dbSNP: rs137854327
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000042785 SCV004848118 pathogenic Tuberous sclerosis syndrome 2019-02-01 criteria provided, single submitter clinical testing The p.Glu1442fs variant in TSC2 has been previously reported in 1 individual with tuberous sclerosis (LOVD database) and was absent from large population studies. It has been reported in ClinVar (Variation ID 49525). This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1442 and leads to a premature termination codon 82 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the TSC2 gene is an established disease mechanism in tuberous sclerosis. In summary, this variant meets criteria to be classified as pathogenic for tuberous sclerosis in an autosomal dominant manner. ACMG/AMP Criteria applied: PVS1, PM2, PS4_P (Richards 2015).
Tuberous sclerosis database (TSC2) RCV000042785 SCV000066581 not provided Tuberous sclerosis syndrome no assertion provided curation

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