Submissions for variant NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro)

gnomAD frequency: 0.00185  dbSNP: rs76757102

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172571	SCV000051022	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039005	SCV000062683	benign	not specified	2012-11-20	criteria provided, single submitter	clinical testing	Gln10Pro in exon 2 of MYOZ2: This variant is not expected to have clinical signi ficance because it has been identified in 4.2% (24/572) of Asian chromosomes fro m a broad population by the 1000 Genomes project (dbSNP rs76757102).
GeneDx	RCV000039005	SCV000250625	benign	not specified	2014-11-18	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.
Ambry Genetics	RCV000242166	SCV000319029	benign	Cardiovascular phenotype	2016-11-04	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Invitae	RCV000358872	SCV000563518	benign	Hypertrophic cardiomyopathy	2024-01-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000172571	SCV000699423	benign	not provided	2017-08-25	criteria provided, single submitter	clinical testing	Variant summary: The MYOZ2 c.29A>C (p.Gln10Pro) variant involves the alteration of a conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 320/118584 control chromosomes (5 homozygotes), predominantly observed in the East Asian subpopulation at a frequency of 0.033583 (287/8546). This frequency is about 1343 times the estimated maximal expected allele frequency of a pathogenic MYOZ2 variant (0.000025), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. In addition, multiple clinical diagnostic laboratories in ClinVar have classified this variant as benign/likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals in literature, nor has it been functionally characterized. Taken together, this variant is classified as benign.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625132	SCV000743832	benign	Hypertrophic cardiomyopathy 16	2017-07-28	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625132	SCV000745237	benign	Hypertrophic cardiomyopathy 16	2017-05-31	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852985	SCV000995734	benign	Cardiomyopathy; Hypertrophic cardiomyopathy	2019-01-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170132	SCV001332673	benign	Cardiomyopathy	2018-02-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000625132	SCV002805669	likely benign	Hypertrophic cardiomyopathy 16	2021-10-13	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039005	SCV001922018	benign	not specified		no assertion criteria provided	clinical testing