ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.5476_5477delinsAA (p.Gly1826Asn) (rs878854502)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230889 SCV000287438 uncertain significance Familial hypertrophic cardiomyopathy 14 2019-10-22 criteria provided, single submitter clinical testing This sequence change replaces glycine with asparagine at codon 1826 of the MYH6 protein (p.Gly1826Asn). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with dilated cardiomyopathy, however, it was classified as a polymorphism (PMID: 15998695, 27600940). ClinVar contains an entry for this variant (Variation ID: 239179). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV000253607 SCV000319750 likely benign Cardiovascular phenotype 2019-11-08 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770424 SCV000901867 uncertain significance Cardiomyopathy 2016-11-16 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845389 SCV000987450 uncertain significance Conduction disorder of the heart criteria provided, single submitter clinical testing

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