ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4204G>A (p.Glu1402Lys)

dbSNP: rs727505025
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156451 SCV000206170 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Glu1402Lys variant in MYH7 has not been previously reported in individuals with cardiomyopa thy or in large population studies. Glutamic Acid at position 1402 is highly con served in evolution and the change to Lysine was predicted to be pathogenic usin g a computational tool clinically validated by our laboratory. This tool's patho genic prediction is estimated to be correct 94% of the time (Jordan 2011). Altho ugh this data supports that the Glu1402Lys variant may be pathogenic, additional studies are needed to fully assess its clinical significance.

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