Submissions for variant NM_022114.4(PRDM16):c.38-14G>A

gnomAD frequency: 0.00058  dbSNP: rs368409902

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219133	SCV000272332	uncertain significance	not specified	2015-04-14	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The c.38-14G>A vari ant in PRDM16 has not been previously reported in individuals with cardiomyopath y, but has been identified in 0.1% (59/62964) of European chromosomes by the Exo me Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3684099 02). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enou gh to rule out pathogenicity. In summary, while the clinical significance of the c.38-14G>A variant is uncertain, its frequency suggests that it is more likely to be benign.
GeneDx	RCV000219133	SCV000527901	likely benign	not specified	2018-01-16	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.
Invitae	RCV002057174	SCV002347893	benign	Left ventricular noncompaction 8	2023-11-27	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000219133	SCV001917673	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723800	SCV001956950	likely benign	not provided		no assertion criteria provided	clinical testing