Submissions for variant NM_022114.4(PRDM16):c.429C>T (p.Cys143=)

gnomAD frequency: 0.00084  dbSNP: rs150097149

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219941	SCV000269738	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Cys143Cys in exon 3 of PRDM16: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.3% (13/4172) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs150097149).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000559512	SCV000654400	benign	Left ventricular noncompaction 8	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001697243	SCV000728080	likely benign	not provided	2020-09-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967576	SCV004781283	likely benign	PRDM16-related disorder	2022-01-04	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).