ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser)

gnomAD frequency: 0.00057  dbSNP: rs375308440
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
Invitae RCV001088110 SCV000290646 likely benign Left ventricular noncompaction 8 2024-01-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000611940 SCV000711463 uncertain significance not specified 2016-08-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Gly817Ser var iant in PRDM16 has not been previously reported in individuals with cardiomyopat hy, but has been identified in 0.2% (6/2466) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs375308440 ). Computational prediction tools and conservation analysis suggest that the p.G ly817Ser variant may impact the protein, though this information is not predicti ve enough to determine pathogenicity. In summary, while the clinical significanc e of the p.Gly817Ser variant is uncertain, its frequency suggests that it is mor e likely to be benign.
GeneDx RCV000828659 SCV000970356 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30847666)
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001088110 SCV003920345 uncertain significance Left ventricular noncompaction 8 2021-03-30 criteria provided, single submitter clinical testing PRDM16 NM_022114.3 exon 9 p.Gly817Ser (c.2449G>A): This variant has not been reported in the literature but is present in 0.2% (41/18334) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-3329210-G-A). This variant is present in ClinVar (Variation ID:241425). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV003919978 SCV004732552 likely benign PRDM16-related condition 2022-03-25 criteria provided, single submitter 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.