ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1101_1114del (p.Asp368fs)

dbSNP: rs118203495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000041987 SCV004039276 pathogenic Tuberous sclerosis syndrome 2023-08-01 criteria provided, single submitter clinical testing Variant summary: TSC1 c.1101_1114del14 (p.Asp368LeufsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251304 control chromosomes (gnomAD). c.1101_1114del14 has been reported in the literature in individuals affected with Tuberous Sclerosis Complex (e.g., Au_2007, LOVD database). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication was ascertained in the context of this evaluation (PMID: 17304050). No submitters have reported clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Tuberous sclerosis database (TSC1) RCV000041987 SCV000065767 not provided Tuberous sclerosis syndrome no assertion provided curation

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