Submissions for variant NM_000258.3(MYL3):c.92G>A (p.Arg31His) (rs199639940)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000221537	SCV000272078	uncertain significance	not specified	2015-01-19	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The p.Arg31His vari ant in MYL3 has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.15% (13/8764) of East Asian chromosomes by the Exo me Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1996399 40) and 1/427 healthy controls from one study (Kapplinger 2014). Arginine (Arg) at position 31 is not conserved in mammals or in evolutionarily distant species and 1 mammal species (manatee) carries a histidine (His) at this position, raisi ng the possibility that this change may be tolerated. In summary, while the clin ical significance of the p.Arg31His variant is uncertain, its presence in genera l population and lack of evolutionarily conservation suggest that it is more lik ely to be benign.
Invitae	RCV000629148	SCV000750064	likely benign	Hypertrophic cardiomyopathy	2019-12-31	criteria provided, single submitter	clinical testing
Color	RCV000771967	SCV000904921	uncertain significance	Cardiomyopathy	2019-08-26	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego	RCV000852967	SCV000995716	likely benign	Amyloidogenic transthyretin amyloidosis	2019-05-20	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario	RCV000771967	SCV001333538	benign	Cardiomyopathy	2018-04-13	criteria provided, single submitter	clinical testing