ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5252_5259+19del (rs137854397)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201086 SCV000255915 pathogenic Tuberous sclerosis 2 2013-05-03 criteria provided, single submitter clinical testing
Invitae RCV000201086 SCV000944719 pathogenic Tuberous sclerosis 2 2018-07-30 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 41(c.5252_5252+19) of the TSC2 gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with tuberous sclerosis complex (PMID: 11112665) and has been reported the Leiden Open-source Variation Database (PMID: 21520333, 25498131). ClinVar contains an entry for this variant (Variation ID: 49366). A different truncation (c.5281_5296del, p.Ser1761Leufs*60) that lies downstream of this variant has been determined to be pathogenic (Invitae). This suggests that deletion of this region of the TSC2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042626 SCV000066420 not provided Tuberous sclerosis syndrome no assertion provided curation

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