ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1775T>C (p.Val592Ala)

gnomAD frequency: 0.00006  dbSNP: rs374420141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769338 SCV000900719 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000769338 SCV002711887 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-11-19 criteria provided, single submitter clinical testing The p.V592A variant (also known as c.1775T>C), located in coding exon 10 of the MYLK gene, results from a T to C substitution at nucleotide position 1775. The valine at codon 592 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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 RCV002487568 SCV002790427 uncertain significance Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 2021-09-07 criteria provided, single submitter clinical testing

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