Submissions for variant NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)

gnomAD frequency: 0.00004  dbSNP: rs529442984

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156730	SCV000206451	likely benign	not specified	2014-08-07	criteria provided, single submitter	clinical testing	Ala711Ala in exon 10 of PKP2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence.
GeneDx	RCV001706058	SCV000534291	likely benign	not provided	2020-10-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000557801	SCV000638882	benign	Arrhythmogenic right ventricular dysplasia 9	2024-01-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620698	SCV000735642	likely benign	Cardiovascular phenotype	2017-07-12	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.
Color Diagnostics, LLC DBA Color Health	RCV000777858	SCV000913861	benign	Cardiomyopathy	2018-10-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000557801	SCV001266715	uncertain significance	Arrhythmogenic right ventricular dysplasia 9	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000156730	SCV001338176	likely benign	not specified	2020-02-22	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000557801	SCV000733160	likely benign	Arrhythmogenic right ventricular dysplasia 9		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000156730	SCV001921313	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001706058	SCV001930056	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001706058	SCV002037643	likely benign	not provided		no assertion criteria provided	clinical testing