Submissions for variant NM_002471.4(MYH6):c.3979-17_3979-16dup

dbSNP: rs193922652

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001193052	SCV001361606	likely benign	not specified	2019-11-21	criteria provided, single submitter	clinical testing	Variant summary: MYH6 c.3979-9_3979-8dupCC alters multiple nucleotides in a repeat Cs region located close to a canonical splice site. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 139674 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3979-9_3979-8dupCC in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. However, several del/dup variants have been found in this region and classified as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Invitae	RCV002559218	SCV003243500	benign	Hypertrophic cardiomyopathy 14	2022-07-20	criteria provided, single submitter	clinical testing