ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.800C>A (p.Thr267Asn)

gnomAD frequency: 0.00001  dbSNP: rs755451013
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659938 SCV000781842 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000795326 SCV000934781 uncertain significance Aortic aneurysm, familial thoracic 7 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 267 of the MYLK protein (p.Thr267Asn). This variant is present in population databases (rs755451013, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with MYLK-related conditions. ClinVar contains an entry for this variant (Variation ID: 547553). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYLK protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002422444 SCV002680867 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-06-23 criteria provided, single submitter clinical testing The p.T267N variant (also known as c.800C>A), located in coding exon 7 of the MYLK gene, results from a C to A substitution at nucleotide position 800. The threonine at codon 267 is replaced by asparagine, 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.

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