ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) (rs397515077)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189909 SCV000243568 likely benign not specified 2013-11-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000189909 SCV000540608 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Weakly associated with epilepsy and autism
Ambry Genetics RCV000562671 SCV000675596 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-23 criteria provided, single submitter clinical testing The p.P878S variant (also known as c.2632C>T), located in coding exon 22 of the TSC2 gene, results from a C to T substitution at nucleotide position 2632. The proline at codon 878 is replaced by serine, an amino acid with similar properties. This variant has been detected in an individual with epilepsy (van Eeghen AM et al. Epilepsy Res. 2013 Jan; 103(1):83-7). In another study, this alteration was not detected in a cohort with autism spectrum disorder but was detected in an unaffected parent (Bahl S et al. Mol Autism. 2013 Mar 20;4(1):5). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000644061 SCV000765751 likely benign Tuberous sclerosis 2 2020-11-25 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055315 SCV000083535 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055380 SCV000083601 not provided Autism spectrum disorder no assertion provided curation

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