ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4316dup (p.Gln1440fs)

dbSNP: rs137853988
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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 RCV000043036 SCV001983520 likely pathogenic Tuberous sclerosis syndrome 2021-09-27 criteria provided, single submitter clinical testing Variant summary: TSC2 c.4316dupG (p.Gln1440ProfsX84) 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. Truncations downstream of this position have been classified as pathogenic in other databases (e.g. ClinVar, HGMD). The variant was absent in 238204 control chromosomes. To our knowledge, no occurrence of c.4316dupG in individuals affected with Tuberous Sclerosis Complex and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Tuberous sclerosis database (TSC2) RCV000043036 SCV000066835 not provided Tuberous sclerosis syndrome no assertion provided curation

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