ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys) (rs727504274)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154273 SCV000203932 likely pathogenic Hypertrophic cardiomyopathy 2014-04-04 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000158602 SCV000208537 pathogenic not provided 2014-02-15 criteria provided, single submitter clinical testing The E1116K mutation in the MYH7 gene has been reported previously in one individual with HCM (Waldmuller et al., 2008). E1116K results in a non-conservative amino acid substitution of a negatively charged residue (Glu) with a positively charged one (Lys), at a position that is highly conserved across species. A mutation in a nearby residue (G1101S) has been reported in association with HCM, supporting the functional importance of this region of the protein. Furthermore, the E1116K mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is found in HCM panel(s).

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