Submissions for variant NM_014476.6(PDLIM3):c.387G>A (p.Pro129=)

gnomAD frequency: 0.00111  dbSNP: rs138670107

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127423	SCV000170987	benign	not specified	2014-06-18	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000127423	SCV000269633	benign	not specified	2015-04-13	criteria provided, single submitter	clinical testing	p.Pro129Pro in exon 4 of PDLIM3: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.3% (192/66724) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs138670107).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000464207	SCV000555694	benign	Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy	2024-12-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000127423	SCV002624257	likely benign	not specified	2022-05-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV001701612	SCV005306564	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701612	SCV001932120	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701612	SCV001954707	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701612	SCV001965287	likely benign	not provided		no assertion criteria provided	clinical testing