ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.330G>A (p.Thr110=)

gnomAD frequency: 0.01713  dbSNP: rs9849776
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213763 SCV000269241 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr110Thr in exon 2 of MITF: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 4.8% (205/4268) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs9849776).
GeneDx RCV000839452 SCV000981351 benign not provided 2018-04-27 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.
Athena Diagnostics RCV000839452 SCV001144509 benign not provided 2018-11-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000213763 SCV002550856 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316181 SCV004015856 benign Melanoma, cutaneous malignant, susceptibility to, 8 2023-07-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000839452 SCV004564781 benign not provided 2023-10-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000839452 SCV005302317 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003917873 SCV004728893 benign MITF-related disorder 2019-03-08 no assertion criteria provided clinical testing This variant is classified as 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.