ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala)

gnomAD frequency: 0.00063  dbSNP: rs10077543
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462842 SCV000546359 likely benign Charcot-Marie-Tooth disease type 4 2024-12-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507530 SCV000605102 uncertain significance not specified 2016-09-28 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173158 SCV001336236 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002393104 SCV002700817 uncertain significance Inborn genetic diseases 2021-06-17 criteria provided, single submitter clinical testing The p.T495A variant (also known as c.1483A>G), located in coding exon 11 of the SH3TC2 gene, results from an A to G substitution at nucleotide position 1483. The threonine at codon 495 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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.
PreventionGenetics, part of Exact Sciences RCV004533178 SCV004743060 likely benign SH3TC2-related disorder 2021-02-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.