ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5123T>C (p.Leu1708Pro)

dbSNP: rs397515274
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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 RCV002345361 SCV002646535 likely pathogenic Hereditary cancer-predisposing syndrome 2017-05-24 criteria provided, single submitter clinical testing The p.L1708P variant (also known as c.5123T>C), located in coding exon 39 of the TSC2 gene, results from a T to C substitution at nucleotide position 5123. The leucine at codon 1708 is replaced by proline, an amino acid with similar properties. In one study, this alteration was detected in an individual from a cohort of patients who had or were suspected to have tuberous sclerosis complex (TSC) (Sancak O et al. Eur. J. Hum. Genet., 2005 Jun;13:731-41). In another study, this alteration was detected in an individual with TSC symptoms; however it is unclear whether this individual met formal diagnostic criteria (van Eeghen AM et al. Epilepsy Res., 2013 Jan;103:83-7). In addition, internal structural analysis predicts that this alteration will significantly disrupt protein structure and impact the function of a significant protein domain. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Tuberous sclerosis database (TSC2) RCV000055589 SCV000083813 not provided Tuberous sclerosis syndrome no assertion provided curation

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