ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) (rs371564200)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035442 SCV000059090 uncertain significance not specified 2010-09-10 criteria provided, single submitter clinical testing The Asp610Asn variant has not been reported in the literature, however it has be en identified by our laboratory in two individuals with clinical diagnoses of HC M, including one individual of Asian ethnicity who was homozygous for the Asp610 Asn variant and had childhood onset of disease. Aspartic acid (Asp) at position 610 is conserved across mammalian species, however it is not conserved in lower species. In summary, given the available data, the clinical significance of th is variant cannot be determined at this time.
Invitae RCV000550478 SCV000623536 uncertain significance Hypertrophic cardiomyopathy 2018-02-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 610 of the MYBPC3 protein (p.Asp610Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. 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 several individuals affected with hypertrophic cardiomyopathy (PMID: 22857948, 27532257). ClinVar contains an entry for this variant (Variation ID: 42575). 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"). A different missense substitution at this codon (p.Asp610His) has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 28538763). 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.
Ambry Genetics RCV000621171 SCV000739937 uncertain significance Cardiovascular phenotype 2017-03-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Blueprint Genetics RCV000143912 SCV000188785 likely pathogenic Primary dilated cardiomyopathy 2014-02-03 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148681 SCV000190405 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-06-01 no assertion criteria provided research

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