ClinVar Miner

Submissions for variant NM_000432.3(MYL2):c.193G>A (p.Glu65Lys) (rs397516398)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626688 SCV000747391 likely pathogenic Hypertrophic cardiomyopathy 2017-01-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000626688 SCV000060040 likely pathogenic Hypertrophic cardiomyopathy 2011-02-17 criteria provided, single submitter clinical testing The Glu65Lys variant has not been reported in the literature nor detected in iso lation by our laboratory. This variant was not identified in either parent of th is individual, indicating that this variant likely arose de novo in this individ ual. In addition, glutamic acid (Glu) at position 65 is highly conserved across several evolutionary distant species, increasing the likelihood that the change is pathogenic. Furthermore, this variant was predicted to be pathogenic using a novel computational tool (a customized sarcomere-specific PolyPhen tool, which w as validated using a set of cardiomyopathy variants with well-established clinic al significance). This tool's pathogenic prediction is estimated to be correct 9 4% of the time. Therefore, this variant is likely to be pathogenic.

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