ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.337-1G>T

dbSNP: rs45517105
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002453337 SCV002614405 pathogenic Hereditary cancer-predisposing syndrome 2018-05-21 criteria provided, single submitter clinical testing The c.337-1G>T intronic variant results from a G to T substitution one nucleotide upstream from coding exon 4 of the TSC2 gene.This alteration has been identified in patients reportedly meeting diagnostic criteria for tuberous sclerosis; however, clinical details were limited (Choy YS et al. Ann. Hum. Genet. 1999 Sep;63(Pt 5):383-91; Dabora SL et al. Am. J. Hum. Genet. 2001 Jan;68:64-80; Ambry internal data). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.
Tuberous sclerosis database (TSC2) RCV000042512 SCV000066303 not provided Tuberous sclerosis syndrome no assertion provided curation

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