Submissions for variant NM_016599.5(MYOZ2):c.76+19C>T

gnomAD frequency: 0.00476  dbSNP: rs77591499

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127066	SCV000170601	benign	not specified	2014-03-05	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000587354	SCV000699425	benign	not provided	2017-08-25	criteria provided, single submitter	clinical testing	Variant summary: The MYOZ2 c.76+19C>T variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 159/111960 control chromosomes (3 homozygotes) from ExAC, predominantly observed in the African subpopulation at a frequency of 0.015628 (151/9662). This frequency is about 625 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 African origin. One clinical diagnostic laboratory in ClinVar has classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals in literature. Taken together, this variant is classified as benign.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625400	SCV000745239	benign	Hypertrophic cardiomyopathy 16	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055694	SCV002405515	benign	Hypertrophic cardiomyopathy	2025-02-02	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000127066	SCV001924126	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000587354	SCV001953345	likely benign	not provided		no assertion criteria provided	clinical testing