ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4505G>A (p.Arg1502Gln) (rs199936506)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172022 SCV000050997 uncertain significance Primary dilated cardiomyopathy 2013-06-24 criteria provided, single submitter research
Fulgent Genetics,Fulgent Genetics RCV000515370 SCV000611483 uncertain significance Familial hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Familial hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000466575 SCV000546159 likely benign Familial hypertrophic cardiomyopathy 14 2017-06-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037507 SCV000061165 uncertain significance not specified 2012-04-20 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg1502Gln vari ant (MYH6) was reported in two individuals with DCM and was absent from at least 792 control chromosomes (Carniel 2005, Hershberger 2010). One of these individ uals also carried a pathogenic DCM variant as well as a second variant in MYH6 ( Ile275Asn). The variant was present in 0.05% (3/7020) of European American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS/); however, this frequency is too low to confidently rul e out a disease causing role. Computational analyses (biochemical amino acid pro perties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong sup port for or against an impact to the protein. In summary, this variant is more likely to be benign but additional studies are needed to determine this with con fidence.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000623195 SCV000740610 uncertain significance Familial dilated cardiomyopathy 2016-07-29 criteria provided, single submitter clinical testing

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