ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1510_1512AAG[1] (p.Lys505del) (rs727504287)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620866 SCV000740257 uncertain significance Cardiovascular phenotype 2017-12-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770364 SCV000901805 uncertain significance Cardiomyopathy 2016-02-23 criteria provided, single submitter clinical testing
Invitae RCV000536227 SCV000623529 uncertain significance Hypertrophic cardiomyopathy 2018-12-18 criteria provided, single submitter clinical testing This variant, c.1513_1515delAAG, results in the deletion of 1 amino acid of the MYBPC3 protein (p.Lys505del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 16566405, 24093860, 27532257, 12707239, 28138913), an individual with sudden cardiac death (PMID: 28255936), and in an individual with severe left ventricular hypertrophy who carried another pathogenic variant in MYBPC3 (PMID: 24602869). This variant is also described as Del [10957-10959], Del K504 in the literature (PMID: 12707239). ClinVar contains an entry for this variant (Variation ID: 177699). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154300 SCV000203959 uncertain significance not specified 2019-01-02 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000201476 SCV000256175 likely pathogenic Familial hypertrophic cardiomyopathy 4 criteria provided, single submitter clinical testing

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