ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1342G>C (p.Asp448His) (rs587781252)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Medical Genetics, Telemark Hospital Trust RCV000144879 SCV000172151 uncertain significance Charcot-Marie-Tooth disease 2013-11-01 no assertion criteria provided research
Invitae RCV000801956 SCV000941762 uncertain significance Charcot-Marie-Tooth disease type 4 2018-08-16 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 448 of the SH3TC2 protein (p.Asp448His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is present in population databases (rs587781252, ExAC 0.02%). This variant has been observed in an individual affected with Charcot-Marie-Tooth disease, however no second SH3TC2 variant was detected (PMID: 25025039). ClinVar contains an entry for this variant (Variation ID: 157533). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.