ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) (rs45451497)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190075 SCV000243750 pathogenic not provided 2018-10-23 criteria provided, single submitter clinical testing p.Arg1138Ter (CGA>TGA): c.3412 C>T in exon 30 of the TSC2 gene (NM_000548.3) The R1138X nonsense mutation in the TSC2 gene has been reported previously in multiple unrelated individuals with a clinical diagnosis of tuberous sclerosis (Mayer et al., 1999; Dabora et al., 2001; TSC2 LOVD). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in TUBSC-EPIV2 panel(s).
Athena Diagnostics Inc RCV000201090 SCV000255892 pathogenic Tuberous sclerosis 2 2015-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491678 SCV000579608 pathogenic Hereditary cancer-predisposing syndrome 2016-10-20 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000201090 SCV000644437 pathogenic Tuberous sclerosis 2 2019-08-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1138 (p.Arg1138*) of 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. This particular variant has been reported in the literature in individuals affected with tuberous sclerosis complex (PMID: 10533066, 16981987). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042516 SCV000066307 not provided Tuberous sclerosis syndrome no assertion provided curation

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