ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2356C>T (p.Arg786Ter) (rs118203682)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491852 SCV000579943 pathogenic Hereditary cancer-predisposing syndrome 2018-02-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: 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)
Athena Diagnostics Inc RCV000519452 SCV000255857 pathogenic not provided 2015-06-10 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000201048 SCV000782393 pathogenic Tuberous sclerosis 1 2016-11-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415379 SCV000492663 pathogenic Seizures; Cardiac rhabdomyoma; Hamartoma 2016-01-18 no assertion criteria provided clinical testing
GeneDx RCV000519452 SCV000616904 pathogenic not provided 2018-05-07 criteria provided, single submitter clinical testing The R786X nonsense variant in the TSC1 gene has been reported previously multiple times inassociation with tuberous sclerosis complex (van Slegtenhorst et al., 1997; Au et al., 2007; TSC1LOVD). This pathogenic variant is predicted to cause loss of normal protein function either throughprotein truncation or nonsense-mediated mRNA decay. The R786X variant is not observed in largepopulation cohorts (Lek et al., 2016). Therefore, the presence of R786X is consistent with thediagnosis of TSC in this individual.
Invitae RCV000201048 SCV000552281 pathogenic Tuberous sclerosis 1 2018-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg786*) in the TSC1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with tuberous sclerosis complex (PMID: 9242607, 16981987, 11112665, 9924605, 10363127, 9803264, 9863590, 10227394, 10533067). This variant is also known as 2577C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 48943). Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC1) RCV000042194 SCV000065980 not provided Tuberous sclerosis syndrome no assertion provided curation

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