Submissions for variant NM_002667.5(PLN):c.27C>T (p.Arg9=)

gnomAD frequency: 0.00051  dbSNP: rs145623013

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037580	SCV000061238	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Arg9Arg in exon 2 of PLN: This variant is not expected to have clinical signific ance because it does not alter an amino acid residue and is not located within t he splice consensus sequence. It has been identified in 0.1% (6/7020) of Europea n American chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS; dbSNP rs145623013). Arg9Arg in exon 2 o f PLN (rs145623013; 0.1%, 6/7020) **
GeneDx	RCV000037580	SCV000514182	benign	not specified	2015-04-23	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000465487	SCV000561621	likely benign	Dilated cardiomyopathy 1P	2025-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621419	SCV000740057	likely benign	Cardiovascular phenotype	2016-10-28	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769214	SCV000900590	likely benign	Cardiomyopathy	2017-10-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000465487	SCV001316972	uncertain significance	Dilated cardiomyopathy 1P	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000037580	SCV001361671	benign	not specified	2019-11-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001529611	SCV002047764	likely benign	not provided	2024-05-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529611	SCV003917092	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	PLN: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529611	SCV001743348	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529611	SCV001928301	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529611	SCV001952296	likely benign	not provided		no assertion criteria provided	clinical testing