ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2291A>G (p.Asp764Gly)

gnomAD frequency: 0.00001  dbSNP: rs763243524
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313436 SCV000739309 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-10-07 criteria provided, single submitter clinical testing The p.D764G variant (also known as c.2291A>G), located in coding exon 13 of the MYLK gene, results from an A to G substitution at nucleotide position 2291. The aspartic acid at codon 764 is replaced by glycine, an amino acid with similar properties. Based on data from ExAC, the G allele has an overall frequency less than 0.01% (1/106190). This amino acid position is not well conserved in available vertebrate species, and glycine is the reference amino acid in other 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.
GeneDx RCV002274071 SCV002559281 uncertain significance not provided 2022-08-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function

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