ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3508G>A (p.Glu1170Lys) (rs727503236)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617980 SCV000740253 uncertain significance Cardiovascular phenotype 2017-11-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477774 SCV000536800 uncertain significance Dilated cardiomyopathy 1EE; Familial hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2016-01-24 no assertion criteria provided research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151217 SCV000199061 uncertain significance not specified 2014-02-17 criteria provided, single submitter clinical testing The Glu1170Lys variant in MYH6 has not been previously reported in individuals w ith cardiomyopathy and data from large population studies is insufficient to det ermine its frequency. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen-2, and SIFT) suggest this variant may impact the protein, though this information is not predictive enough to determine patho genicity. Additional information is needed to fully assess the clinical signific ance of this variant.

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