ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn)

gnomAD frequency: 0.00003  dbSNP: rs369751362
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182523 SCV000234870 uncertain significance not provided 2017-02-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH11 gene. The D1579N variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). TheD1579N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that isconserved across species. In silico analysis predicts this variant isprobably damaging to the protein structure/function.
Labcorp Genetics (formerly Invitae), Labcorp RCV001088950 SCV000641052 likely benign Aortic aneurysm, familial thoracic 4 2023-09-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000778043 SCV000914157 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000778043 SCV002042942 benign Familial thoracic aortic aneurysm and aortic dissection 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000778043 SCV002639327 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-08-01 criteria provided, single submitter clinical testing The p.D1579N variant (also known as c.4735G>A), located in coding exon 32 of the MYH11 gene, results from a G to A substitution at nucleotide position 4735. The aspartic acid at codon 1579 is replaced by asparagine, an amino acid with highly similar properties. This variant was reported in a thoracic aortic aneurysm and dissection (TAAD) cohort; however, clinical details were not provided (Overwater E et al. Hum. Mutat., 2018 09;39:1173-1192). This amino acid position is well 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.

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