ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) (rs769167548)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172012 SCV000054773 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000201486 SCV000256164 likely pathogenic Familial hypertrophic cardiomyopathy 4 criteria provided, single submitter clinical testing
Invitae RCV001071640 SCV001236953 uncertain significance Hypertrophic cardiomyopathy 2019-11-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 214 of the MYBPC3 protein (p.Asp214Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs769167548, ExAC 0.02%). This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 28771489). ClinVar contains an entry for this variant (Variation ID: 191705). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Color RCV001177404 SCV001341606 uncertain significance Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing

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