ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4351dup (p.Arg1451fs)

dbSNP: rs397514939
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817575 SCV000958144 pathogenic Tuberous sclerosis 2 2022-06-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1451Profs*73) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 65040). For these reasons, this variant has been classified as Pathogenic.
Neuberg Centre For Genomic Medicine, NCGM RCV000817575 SCV004100452 likely pathogenic Tuberous sclerosis 2 criteria provided, single submitter clinical testing The frameshift duplication p.R1451Pfs*73 in TSC2 (NM_000548.5) has been reported in ClinVar as Pathogenic. The p.R1451Pfs*73 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. The frame shifted sequence continues 73 residues until a stop codon is reached. For these reasons, this variant has been classified as Likely Pathogenic.
Tuberous sclerosis database (TSC2) RCV000055246 SCV000083465 not provided Tuberous sclerosis syndrome no assertion provided curation

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