ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) (rs397516190)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000487455 SCV000564446 likely pathogenic Ebstein anomaly of the tricuspid valve 2016-12-15 reviewed by expert panel curation The c.3658_3660del (p.Glu1220del) variant in MYH7 has been reported in 2 individuals with Ebstein anomaly (PS4_Supporting; PMID:21127202; Partners LMM ClinVar SCV000059512.5). This variant segregated with disease in 3 affected individuals (PP1; Partners LMM ClinVar SCV000059512.5). This variant was absent from large population studies (PM2; http://exac.broadinstitute.org). This variant is a deletion of 1 amino acid at position 1220 and is not predicted to alter the protein reading-frame (PM4). In summary, this variant meets criteria to be classified as likely pathogenic for Ebstein anomaly in an autosomal dominant manner. MYH7-specific ACMG/AMP criteria applied (PMID:29300372): PM2; PM4; PP1; PS4_ Supporting
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035861 SCV000059512 likely pathogenic Left ventricular noncompaction 2014-01-14 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Ambry Genetics RCV000243331 SCV000319928 likely pathogenic Cardiovascular phenotype 2015-07-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Moderate segregation with disease (at least 3 informative meioses) for rare diseases.,Rarity in general population databases (dbsnp, esp, 1000 genomes),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species

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