ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys) (rs750987717)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208040 SCV000264094 uncertain significance First degree atrioventricular block 2015-08-27 criteria provided, single submitter clinical testing
Invitae RCV000811692 SCV000951971 uncertain significance Hypertrophic cardiomyopathy 2018-10-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1573 of the MYH7 protein (p.Glu1573Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs750987717, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in an individual affected with cardiac defects and in an unaffected relative (PMID: 21127202). This variant has also been observed in an individual affected with left ventricular noncompation (PMID: 28798025). ClinVar contains an entry for this variant (Variation ID: 222729). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV000454653 SCV000539836 uncertain significance not specified 2016-07-26 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 proband with ebstein anomaly and mild hypertrabeculation of the apex, but also identified in her father with normal echo; ClinVar: VUS for first degree atrioventricular block

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