Submissions for variant NM_002471.4(MYH6):c.3979-7T>C

dbSNP: rs535111647

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083898	SCV000287416	benign	Hypertrophic cardiomyopathy 14	2025-01-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000587425	SCV000697925	benign	not provided	2016-06-20	criteria provided, single submitter	clinical testing	Variant summary: The MYH6 c.3979-7T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing and ESEfinder predicts changes of binding motifs for RNA splicing enhancers. This variant was found in 267/76776 control chromosomes (2 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.0154313 (122/7906). This frequency is about 617 times the estimated maximal expected allele frequency of a pathogenic MYH6 variant (0.000025), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications or clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
GeneDx	RCV000603968	SCV000730709	benign	not specified	2017-02-08	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769403	SCV000900795	benign	Cardiomyopathy	2018-12-12	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000587425	SCV001741406	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000603968	SCV001951676	benign	not specified		no assertion criteria provided	clinical testing