ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.569C>T (p.Pro190Leu)

gnomAD frequency: 0.00005  dbSNP: rs199736263
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313458 SCV000739345 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-09-22 criteria provided, single submitter clinical testing The p.P190L variant (also known as c.569C>T), located in coding exon 4 of the MYLK gene, results from a C to T substitution at nucleotide position 569. The proline at codon 190 is replaced by leucine, an amino acid with similar properties, and is located in an Ig-like domain. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001230782 SCV001403277 likely benign Aortic aneurysm, familial thoracic 7 2023-11-02 criteria provided, single submitter clinical testing
GeneDx RCV003328609 SCV004035475 uncertain significance not provided 2023-09-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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