ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3326dup (p.Ala1110fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV003994692 SCV004812656 pathogenic Tuberous sclerosis syndrome 2024-03-01 criteria provided, single submitter clinical testing This sequence change in TSC2 is a frameshift variant predicted to cause a premature stop codon, p.(Ala1110Glyfs*58), in biologically relevant exon 30/42 leading to nonsense-mediated decay in a gene in which loss-of-function is an established disease mechanism. This variant is absent from the population database gnomAD v4.0. To our knowledge, this variant is novel and has not been previously reported in the relevant scientific literature or databases. Mosaicism of this variant has been detected in an individual with a clinical diagnosis of tuberous sclerosis complex (this laboratory). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as PATHOGENIC. Following criteria are met: PVS1, PM2_Supporting, PS4_Supporting.

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