ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn)

gnomAD frequency: 0.00001  dbSNP: rs375169402
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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, Mass General Brigham Personalized Medicine RCV000155803 SCV000205514 uncertain significance not specified 2014-02-13 criteria provided, single submitter clinical testing The Asp1074Asn variant has not been previously reported in individuals with card iomyopathy, but has been identified in 1/8600 European American chromosomes by t he NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Computati onal prediction tools and conservation analysis suggest an impact to the normal function of the protein, but this information is not predictive enough to conclu de pathogenicity conclusively. Additional information is needed to fully assess the clinical significance of the Asp1074Asn variant.
Center for Human Genetics, University of Leuven RCV000497746 SCV000579536 uncertain significance Hypertrophic cardiomyopathy 2017-02-09 criteria provided, single submitter clinical testing ACMG score unknown significance
Invitae RCV001309719 SCV001499226 likely benign Hypertrophic cardiomyopathy 14 2022-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444641 SCV002612233 uncertain significance Cardiovascular phenotype 2020-09-25 criteria provided, single submitter clinical testing The p.D1074N variant (also known as c.3220G>A), located in coding exon 22 of the MYH6 gene, results from a G to A substitution at nucleotide position 3220. The aspartic acid at codon 1074 is replaced by asparagine, an amino acid with highly similar properties. This variant was detected in one family with a hypertrophic cardiomyopathy (HCM) phenotype; however, clinical details were limited (Robyns T et al. Eur. J. Hum. Genet., 2017 12;25:1313-1323). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002498758 SCV002783211 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-08-18 criteria provided, single submitter clinical testing

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